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Gene: Hnrnph2 MGI:1201779

Gene Summary

Name:

heterogeneous nuclear ribonucleoprotein H2

Synonyms:

Ftp3, Hnrph2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal coat/hair pigmentation	Hnrnph2^em1(IMPC)J	HEM	Early adult	8.76×10^-06
abnormal vocalization	Hnrnph2^em1(IMPC)J	HEM	Early adult	4.45×10^-09
abnormal coat/ hair morphology	Hnrnph2^em1(IMPC)J	HEM	Early adult	2.97×10^-15
abnormal vocalization	Hnrnph2^em1(IMPC)J	HOM	Early adult	2.42×10^-10
absent vibrissae	Hnrnph2^em1(IMPC)J	HEM	Early adult	2.48×10^-05
abnormal coat/ hair morphology	Hnrnph2^em1(IMPC)J	HOM	Early adult	5.43×10^-14
abnormal coat/hair pigmentation	Hnrnph2^em1(IMPC)J	HOM	Early adult	4.29×10^-08

Download data as: TSV XLS

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Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Slit Lamp

1 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Hnrnph2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Hnrnph2 (1 diseases)
Human diseases predicted to be associated with Hnrnph2 (1424 diseases)

The table below shows human diseases associated to Hnrnph2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type		Self-injurious behavior, Failure to thrive, Seizure, Underdeveloped nasal alae, Secondary microce...	OMIM:300986

The table below shows human diseases predicted to be associated to Hnrnph2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus, Bilateral tonic-clonic seizure	OMIM:604827
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-...	OMIM:614417
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Epilepsy, Familial Temporal Lobe, 8	Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons...	OMIM:616461
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Seizure, Macrocephaly, Microcephaly, Attention deficit hyperactivity disorder, ...	OMIM:618709
Febrile Seizures, Familial, 4	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:602477
Febrile Seizures, Familial, 1	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:121210
Febrile Seizures, Familial, 5	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609255
Febrile Seizures, Familial, 6	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609253
Epilepsy, Familial Temporal Lobe, 1	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Seizures, Benign Familial Infantile, 5	Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
N-Acetylaspartate Deficiency	Broad-based gait, Seizure, Secondary microcephaly, Short attention span, Self-mutilation, Decreas...	OMIM:614063
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Broad nasal tip, Retrognathia, Inflexible adherence to routines, Failure...	OMIM:613670
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Centralopathic Epilepsy	Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure	OMIM:117100
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to...	OMIM:254770
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus, Seizure, Macrocephaly	OMIM:615937
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607628
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ...	OMIM:604233
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Primary microcepha...	OMIM:245570
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:616172
Seizures, Benign Familial Neonatal, 1	Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ...	OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	OMIM:616685
Seizures, Benign Familial Infantile, 2	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:605751
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Pineocytoma	Increased CSF protein concentration, Memory impairment, Episodic ataxia, Difficulty walking, Cogn...	ORPHA:251912
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Atypical Teratoid Rhabdoid Tumor	Ataxia, Seizure, Irritability, Hydrocephalus, Macrocephaly	ORPHA:99966
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613863
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
17Q21.31 Microduplication Syndrome	Failure to thrive, Anteverted nares, Micrognathia, Malar flattening, Microcephaly, Attention defi...	ORPHA:217340
Developmental And Epileptic Encephalopathy 36	Myoclonic seizure, Microretrognathia, Seizure, Macrocephaly, Anteverted nares, Infantile spasms, ...	OMIM:300884
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:604403
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin...	OMIM:608636
Epilepsy, Familial Temporal Lobe, 6	Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ...	OMIM:615697
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Microcephal...	ORPHA:208441
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Epilepsy, Idiopathic Generalized	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:617924
Intellectual Developmental Disorder, Autosomal Recessive 68	Wide nasal bridge, Hypoplasia of the maxilla, Seizure, Microcephaly, Hydrocephalus	OMIM:618302
Epilepsy, Familial Temporal Lobe, 2	Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate...	OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613060
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ventriculomegaly, Falls, Seizure, Bruxism, Chorea, Inappropriate laughter, Focal-onset seizure, A...	OMIM:619150
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607631
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Generalized myoclonic seizure, Hydrocephalus, Clonic seizure, Bilateral tonic-clonic seizure, Sta...	OMIM:266100
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel...	OMIM:618357
Developmental And Epileptic Encephalopathy 9	Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca...	OMIM:300088
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	White forelock, Macular hyperpigmented dermopathy	ORPHA:2779
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy, Seizure	OMIM:617787
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Intellectual Developmental Disorder, X-Linked 30	Generalized non-motor (absence) seizure, Seizure, Anteverted nares, Prominent nasal bridge, Short...	OMIM:300558
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Broad nasal tip, Failure to thrive, Seizure, Difficulty walking, Secondary microcephaly, Infantil...	OMIM:617393
Peho-Like Syndrome	Ventriculomegaly, Retrognathia, Myoclonus, Progressive microcephaly, Bilateral tonic-clonic seizu...	OMIM:617507
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit...	ORPHA:275864
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Myoclonic seizure, Seizure, Hypoplasia of the brainstem, Secondary microcephaly, Macrocep...	OMIM:618174
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
1Q21.1 Microduplication Syndrome	Failure to thrive, Seizure, Attention deficit hyperactivity disorder, Hydrocephalus, Macrocephaly...	ORPHA:250994
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:611364
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Foxg1 Syndrome	Difficulty walking, Bruxism, Inability to walk, Infantile spasms, Myoclonus, Focal-onset seizure,...	ORPHA:561854
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Developmental And Epileptic Encephalopathy 73	Failure to thrive, Seizure, Narrow nasal bridge, Irritability, Microcephaly, Restlessness, Short ...	OMIM:618379
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Emotional lability, Aggressive behavior, Bilateral tonic-clonic seizure, Motor stereotypy, Status...	OMIM:617171
Febrile Seizures, Familial, 11	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:614418
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Ventriculomegaly, Recurrent hand flapping, Gait ataxia, Progressive microcephal...	OMIM:617862
Holoprosencephaly 5	Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ...	OMIM:609637
Gómez-López-Hernández Syndrome	Impaired pain sensation, Anteverted nares, Hydrocephalus, Cognitive impairment, Ataxia, Hypertelo...	ORPHA:1532
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Wide nasal bridge, Broad nasal tip, Thick nasal alae, Recurrent hand flapping, Narrow jaw, Macroc...	OMIM:618147
Autism	Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ...	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ...	OMIM:607373
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Delayed eruption of teeth, Seizure, Underdeveloped nasal alae, Anteverted nar...	OMIM:618825
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Adenylosuccinate Lyase Deficiency	Microcephaly, Anteverted nares, Seizure, Short nose	ORPHA:46
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Micrognathia, Short nose	ORPHA:2015
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Ventriculomegaly, Seizure, ...	ORPHA:261295
Alexander Disease	Increased CSF protein concentration, Seizure, Dysmetria, Progressive macrocephaly, Hydrocephalus,...	OMIM:203450
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology	OMIM:615548
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Seizure, Inability to walk, Progressive microcephaly, Short nose, Hyperte...	ORPHA:438178
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Seizure, Deeply set eye, Gait disturbance, Truncal obesity, Macrocephaly, Mandibular prognathia, ...	ORPHA:2429
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:1941
Intellectual Developmental Disorder, Autosomal Dominant 7	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Failure to thrive in infa...	OMIM:614104
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Microcephaly, Cognitive impairment, Convex nasal ridge, Hyp...	ORPHA:1695
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Retrognathia, Anteverted nares, Micrognathia, Microcephaly, Mandibular apl...	ORPHA:1832
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Hypoplasia of the pons, Failure to...	OMIM:620157
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Chudley-Mccullough Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:604213
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity, Seizure, Macrocephaly	OMIM:300271
Juvenile Huntington Disease	Broad-based gait, Depression, Ventriculomegaly, Seizure, Chorea, Gait ataxia, Myoclonus, Irritabi...	ORPHA:248111
Childhood Disintegrative Disorder	Mental deterioration, Seizure, Abnormal emotion, Reduced social reciprocity, Motor deterioration,...	ORPHA:168782
Diencephalic Syndrome	Cachexia, Hydrocephalus, Decreased body weight	ORPHA:1672
Autism Spectrum Disorder Due To Auts2 Deficiency	Wide nasal bridge, Proptosis, Retrognathia, Seizure, Anteverted nares, Micrognathia, Microcephaly...	ORPHA:352490
Pandas	Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp...	ORPHA:66624
Mitchell Syndrome	Abnormal autonomic nervous system physiology	OMIM:618960
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive	ORPHA:26
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Seizure, Attention deficit hyperactivity disorder, Macrocephaly, Overweight, Motor stereotypy	OMIM:620065
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Ventriculomegaly, Broad nasal tip, Retrognathia, Generalized non-motor (...	OMIM:615637
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Depressed nasal bridge, Seizure, Abnormal nasal morphology, Hydrocephalus, Macrocephaly	ORPHA:83473
Developmental And Epileptic Encephalopathy 107	Seizure, Microcephaly, Tonic seizure, Progressive microcephaly, Motor stereotypy, Clonic seizure	OMIM:620033
Foxp1 Syndrome	Recurrent upper respiratory tract infections, Broad nasal tip, Retrognathia, Seizure, Failure to ...	ORPHA:391372
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608631
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology	ORPHA:369873
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Seizure, Aggressive behavior, Microcephaly, Hyperactivity, Hydrocephalus, Motor...	OMIM:619470
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Dental malocclusion, Short nose	OMIM:155050
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Nasu-Hakola Disease	Ventriculomegaly, Memory impairment, Seizure, Frontal lobe dementia, Chorea, Irritability, Disinh...	ORPHA:2770
Caribbean Parkinsonism	Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:97355
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Microcephaly, Encephalocele, Convex nasal ridge, Short nose	OMIM:200130
Pick Disease Of Brain	Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotemporal dementia, Emotion...	OMIM:172700
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Wide nasal bridge, Ventriculomegaly, Retrognathia, Bruxism, Persistence of primary teeth, Microgn...	OMIM:618342
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Broad-based gait, Seizure, Difficulty walking, Inability to walk, Bulbou...	OMIM:617695
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Extra-axial cerebrospinal fluid accumulation, Emotional lability, Ataxia, Motor stereotypy, Cloni...	OMIM:619580
Developmental And Epileptic Encephalopathy 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ...	OMIM:619317
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
Rhiny	Anteverted nares, Short nose	OMIM:180360
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bulbou...	OMIM:620292
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Motor stereotypy, Reduced social reciprocity	OMIM:606053
Chromosome 3Q29 Deletion Syndrome	Failure to thrive, Prominent nasal bridge, Gait ataxia, Aggressive behavior, Microcephaly, Hypera...	OMIM:609425
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines	OMIM:300425
Congenital Hydrocephalus	Ventriculomegaly, Seizure, Bulbous nose, Colpocephaly, Hydrocephalus, Macrocephaly	ORPHA:2185
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Ventriculomegaly, Seizure, Micrognathia, Microcephaly, Short nose	ORPHA:1495
Pitt-Hopkins-Like Syndrome 1	Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Macrocephaly, Re...	OMIM:610042
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Periventricular Nodular Heterotopia 7	Microretrognathia, Proptosis, Failure to thrive, Seizure, Generalized non-motor (absence) seizure...	OMIM:617201
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Myoclonic seizure, Broad nasal tip, Lateral ventricle dilatation, Seizure, Ina...	OMIM:615716
Developmental And Epileptic Encephalopathy 58	Seizure, Inability to walk, Secondary microcephaly, Motor stereotypy, Status epilepticus	OMIM:617830
Xq28 (MECP2) duplication	Depressed nasal bridge, Depression, Failure to thrive, Seizure, Inability to walk, Gait ataxia, M...	DECIPHER:45
Frontal Encephalocele	Seizure, Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly	ORPHA:1931
Christianson Syndrome	Mandibular prognathia, Ventriculomegaly, Abnormality of the nose, Generalized-onset seizure, Inap...	ORPHA:85278
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Febrile seizure (within the age range of 3 months to 6 years), Secondary microcephaly, Epileptic ...	ORPHA:289266
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Self-injurious behavior, Ventriculomegaly, Myoclonic seizure, Seizure, Inability to walk, Bruxism...	OMIM:614254
Developmental And Epileptic Encephalopathy 91	Myoclonic seizure, Seizure, Epileptic spasm, Micrognathia, Tonic seizure, Prominent nasal tip, Hy...	OMIM:617711
Dandy-Walker Malformation With Postaxial Polydactyly	Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Dilated fourth ventricle, Hydroceph...	OMIM:220220
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Short columella, Abnorm...	ORPHA:1248
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Increased CSF protein concentration, Ventriculomegaly, Hypoplasia of the maxil...	OMIM:218000
Hydrolethalus Syndrome 2	Ventriculomegaly, Anencephaly, Hydrocephalus, Molar tooth sign on MRI	OMIM:614120
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Seizure, Inability to wal...	OMIM:613443
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Undetectable visual evoked potentials, Ventriculomegaly, Retrognathia, Seizure, Thick nasal alae,...	ORPHA:163961
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Memory impairment, Hydrocephalus, Seizure	ORPHA:1008
Chung-Jansen Syndrome	Obesity, Micrognathia, Anteverted nares, Deeply set eye, Aggressive behavior, Attention deficit h...	OMIM:617991
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Ventriculomegaly, Proptosis, Seizure, Anteverted nares, Micrognathia, Hydrocep...	OMIM:618577
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Seizure, Hydrocephalus, Macrocephaly	OMIM:600348
Intellectual Developmental Disorder, Autosomal Recessive 70	Wide nasal bridge, Retrognathia, Seizure, Febrile seizure (within the age range of 3 months to 6 ...	OMIM:618402
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 years), Inability...	OMIM:618917
Intellectual Developmental Disorder, X-Linked 98	Bulimia, Secondary microcephaly, Self-biting, Ataxia, Long nose, Motor stereotypy, Short nose, Ge...	OMIM:300912
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Memory impairment, Inappropriate behavior, Myoclonus, Disinhibition, Aggressive behavior, Frontot...	OMIM:600795
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Broad nasal tip, Failure to thrive, Seizure, Micrognathia, Deeply set eye, Atte...	OMIM:609757
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Late Infantile Neuronal Ceroid Lipofuscinosis	Mental deterioration, Obsessive-compulsive trait, Motor deterioration, Ataxia, Motor stereotypy, ...	ORPHA:168491
Hyperprolinemia, Type I	Seizure, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy, Status epilepticus	OMIM:239500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Failure to thrive, Seizure, Confusion, Emotional lability, Microcephaly, Lethargy, Cognitive impa...	ORPHA:927
Encephalopathy Due To Sulfite Oxidase Deficiency	Microcephaly, Short nose, Seizure, Ataxia	ORPHA:833
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Decreased body weight, Ataxia, Dysphagia, Motor stereotypy, Pain insensitivity, Depression, Gener...	OMIM:300260
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem	ORPHA:352682
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Intellectual Developmental Disorder, X-Linked 91	Seizure, Short nose	OMIM:300577
Pontocerebellar Hypoplasia, Type 14	Myoclonic seizure, Infantile spasms, Hydrocephalus, Bilateral tonic-clonic seizure, Focal-onset s...	OMIM:619301
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
14Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Seizure, Obesity, Micrognathia, Polyphagia, Attention ...	ORPHA:261229
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Malar flattening, Macrocephaly, Short nose	ORPHA:2835
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Seizure, Inability to walk, Reduced social reciprocity, Motor stereotypy	OMIM:617820
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle, Chorea, Myoclonus, Microcephaly, Attention deficit hyperactivity disorde...	OMIM:619725
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonic seizure, Retrognathia, Gait ataxia, Myoclonus, Impaired tactile sensation, Microcephaly...	OMIM:619092
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormal dental enamel morphology, Bulbous nose, Obesi...	ORPHA:2180
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Gomez-Lopez-Hernandez Syndrome	Self-injurious behavior, Depression, Seizure, Anteverted nares, Malar flattening, Hyperactivity, ...	OMIM:601853
Distal Xq28 Microduplication Syndrome	Epistaxis, Hypoplasia of the maxilla, Depression, Broad nasal tip, Tip-toe gait, Recurrent upper ...	ORPHA:293939
Baker-Gordon Syndrome	Self-injurious behavior, Inability to walk, Prominent nasal tip, Ataxia, Motor stereotypy, Choreo...	OMIM:618218
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Seizure, Inability to walk, Dysmetria, Deeply set eye, Microcephaly, Hypertelorism, Ataxia, Multi...	OMIM:618087
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Seizure, Inability to walk, Bruxism, Epileptic spasm, Anteverted nares, Myoclo...	OMIM:618497
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Self-injurious behavior, Failure to thrive, Seizure, Underdeveloped nasal alae, Secondary microce...	OMIM:300986
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Seizure, Inab...	OMIM:618004
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo...	ORPHA:1529
Snijders Blok-Campeau Syndrome	Wide nasal bridge, Broad-based gait, Myoclonic seizure, Ventriculomegaly, Prominent nose, Infanti...	OMIM:618205
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Memory impairment, Episodic ataxia, Difficulty walking, Cogn...	ORPHA:251915
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Seizure, Secondary microcephaly, Microcephaly, Motor stereotypy, Clonic ...	OMIM:615282
Pontocerebellar Hypoplasia, Type 15	Myoclonic seizure, Infantile spasms, Hydrocephalus, Bilateral tonic-clonic seizure, Focal-onset s...	OMIM:619302
Clark-Baraitser Syndrome	Depressed nasal bridge, Seizure, Obesity, Anteverted nares, Aggressive behavior, Microcephaly, Hy...	OMIM:617752
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Seizure, Microcephaly, Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy	OMIM:618906
Smith-Magenis Syndrome	Self-injurious behavior, Wide nasal bridge, Mandibular prognathia, Depressed nasal bridge, Ventri...	ORPHA:819
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Alexander Disease Type I	Failure to thrive, Seizure, Progressive macrocephaly, Cachexia, Hydrocephalus, Ataxia, Palatal tr...	ORPHA:363717
Joubert Syndrome 36	Anteverted nares, Seizure, Molar tooth sign on MRI, Macrocephaly	OMIM:618763
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Focal myoclonic seizure, Seizure, Failure to thrive, Difficulty walkin...	ORPHA:481152
Masa Syndrome	Microcephaly, Ventriculomegaly, Hydrocephalus, Macrocephaly	OMIM:303350
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Seizure, Prominent nasal bridge, Microcephaly, Macrocephaly	ORPHA:85279
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Bulbous nose, Hypoplasia of the maxilla, Progressive microcephaly, Subependymal cysts	OMIM:618737
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Pain insensitivity, Shuffling gait, Hypoplasia of the maxilla, Recurrent upper respiratory tract ...	OMIM:300534
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Occipital encephalocele, Micrognathia, Microcephaly, Hydrocephalus, Macro...	OMIM:241800
Houge-Janssens Syndrome 3	Self-injurious behavior, Ventriculomegaly, Broad nasal tip, Proptosis, Generalized non-motor (abs...	OMIM:618354
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Broad-based gait, Failure to thrive, Broad columella, Macrocephaly, Stere...	OMIM:617865
Pettigrew Syndrome	Ventriculomegaly, Seizure, Prominent nose, Gait ataxia, Deeply set eye, Microcephaly, Hydrocephal...	OMIM:304340
Intellectual Developmental Disorder, Autosomal Dominant 39	Wide nasal base, Wide nasal bridge, Generalized non-motor (absence) seizure, Hydrocephalus, Focal...	OMIM:616521
Biemond Syndrome Type 2	Obesity, Hydrocephalus	ORPHA:141333
Intellectual Developmental Disorder, Autosomal Dominant 51	Wide nasal base, Wide nasal bridge, Ventriculomegaly, Fixated interests, Failure to thrive, Febri...	OMIM:617788
Shukla-Vernon Syndrome	Wide nasal base, Broad-based gait, Seizure, Aggressive behavior, Attention deficit hyperactivity ...	OMIM:301029
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Wide nasal bridge, Underdeveloped nasal alae, Micrognathia, Hydrocephalus, Macrocephaly, Hypertel...	ORPHA:1516
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Ventriculomegaly, Seizure, Prominent nose, Gait ataxia, Low frustration to...	OMIM:300486
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Miller-Dieker Syndrome	Short nose, Anteverted nares, Seizure, Ataxia	ORPHA:531
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Myoclonic-Astatic Epilepsy	Wide nasal bridge, Atonic seizure, Generalized non-motor (absence) seizure, Thick nasal alae, Abn...	ORPHA:1942
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Pontocerebellar Hypoplasia, Type 2E	Ventriculomegaly, Myoclonic seizure, Secondary microcephaly, Infantile spasms, Myoclonus, Microgn...	OMIM:615851
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Burn-Mckeown Syndrome	Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose	ORPHA:1200
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Seizure, Attention deficit hyperactivity disorder, Macrocephaly, Hypertel...	ORPHA:210548
Pierpont Syndrome	Broad nasal tip, Failure to thrive, Seizure, Malar flattening, Decreased body weight, Deeply set ...	OMIM:602342
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Self-injurious behavior, Depressed nasal bridge, Ventriculomegaly, Failure to thrive, Micrognathi...	OMIM:619833
Multiple System Atrophy	Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er...	ORPHA:102
Perlman Syndrome	Wide nasal bridge, Retrognathia, Seizure, Anteverted nares, Micrognathia, Macrocephaly, Status ep...	ORPHA:2849
Intellectual Developmental Disorder, Autosomal Dominant 1	Secondary microcephaly, Micrognathia, Polyphagia, Ataxia, Hypertelorism, Short nose, Self-injurio...	OMIM:156200
48,Xxyy Syndrome	Broad jaw, Ventriculomegaly, Carious teeth, Depression, Delayed eruption of teeth, Seizure, Abnor...	ORPHA:10
Intellectual Developmental Disorder, Autosomal Dominant 74	Typical absence seizure, Prominent nose, Hypotelorism, Deeply set eye, Diminished ability to conc...	OMIM:620688
Microcephaly-Capillary Malformation Syndrome	Extra-axial cerebrospinal fluid accumulation, Hypoplasia of the maxilla, Failure to thrive, Seizu...	OMIM:614261
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Seizure, Inability to walk, Bruxism, Hypotelorism, Motor stereotypy, Mic...	OMIM:618718
Developmental And Epileptic Encephalopathy 66	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Broad-based gait, Myocloni...	OMIM:618067
Keipert Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Cognitive impairment, ...	ORPHA:2662
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Wide nasal bridge, Hypertelorism, Molar tooth sign on MRI, Macrocephaly	ORPHA:166024
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Wide nasal bridge, Failure to thrive, Seizure, Decreased nerve conduction velocity, Prominent nas...	OMIM:618356
Albinism, Oculocutaneous, Type Vi	Fair hair, Generalized hypopigmentation	OMIM:113750
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Wide nasal bridge, Myoclonic seizure, Hypertelorism, Motor stereotypy	OMIM:619690
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus	ORPHA:2182
Joubert Syndrome 32	Ataxia, Depressed nasal bridge, Large for gestational age, Molar tooth sign on MRI, Macrocephaly,...	OMIM:617757
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis	OMIM:617270
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Seizure, CSF lymphocytic pleiocytosis, Progressive microcephaly, Hydrocephalus,...	OMIM:610333
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation	OMIM:601706
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Seizure, Obesity, Anteverted nares, Short columella, Micrognathia, Malar ...	ORPHA:171839
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Broad nasal tip	ORPHA:2776
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology	ORPHA:85447
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Shuffling gait, Emotional lability, Low frustration tolerance, Restles...	OMIM:300266
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Abnormal cranial nerve morphology, Abnormal autonomic nervous sy...	ORPHA:97229
Severe Intellectual Disability And Progressive Spastic Paraplegia	Seizure, Difficulty walking, Bulbous nose, Microcephaly, Excessive shyness, Overweight, Motor ste...	ORPHA:280763
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Seizure, Bulbous nose, Obesity, Macrocephaly, Deeply set eye, Aggressive ...	OMIM:618430
Joubert Syndrome 31	Ventriculomegaly, Molar tooth sign on MRI	OMIM:617761
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Central Neurocytoma	Pain insensitivity, Depression, Abnormal lateral ventricle morphology, Paresthesia, Lethargy, Hyd...	ORPHA:73256
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Seizure, Macrocephaly	OMIM:300886
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Self-injurious behavior, Wide nasal bridge, Depressed nasal bridge, Retrognat...	OMIM:617061
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Broad nasal tip, Seizure, Micrognathia, Microcephaly, Decreased head ci...	ORPHA:530983
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Micrognathia, Deeply set eye, Hypertelorism, Short nose	ORPHA:261120
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Seizure, Emotional lability, Loss of ambulation, Dysphagia, Cognitive impairment, Mot...	ORPHA:79264
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Ventriculomegaly, Proptosis, Abnormal auditory evoked potentials, Mala...	OMIM:109120
Chromosome 15Q11.2 Deletion Syndrome	Memory impairment, Seizure, Bulbous nose, Narrow nose, Micrognathia, Reduced social reciprocity, ...	OMIM:615656
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Prominent nose, Deeply set eye, Aggressive behavior, Microcephaly, Hyperacti...	OMIM:615541
Multiple System Atrophy, Parkinsonian Type	Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er...	ORPHA:98933
Parkinsonism-Dystonia 2, Infantile-Onset	Abnormal autonomic nervous system physiology	OMIM:618049
Chromosome 2Q37 Deletion Syndrome	Pain insensitivity, Self-injurious behavior, Depressed nasal bridge, Broad nasal tip, Seizure, Ob...	OMIM:600430
Amelocerebrohypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Seizure, Abnormal dental enamel morphology, Amelogenesis...	ORPHA:1946
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Seizure, Generalized non-motor (absence) seizure, Obesity, Anteverted nares, Stereotypical hand w...	OMIM:619854
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Proptosis, Malar flattening, Hydrocephalus, Convex na...	ORPHA:93262
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:598500
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Hydrocephalus, Seizure, Macrocephaly	ORPHA:380
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Slender build, Chorea, Recurrent hand...	OMIM:617600
Harel-Yoon Syndrome	Generalized non-motor (absence) seizure, Inability to walk, Micrognathia, Deeply set eye, Ataxia,...	OMIM:617183
Intellectual Developmental Disorder, Autosomal Dominant 52	Depressed nasal bridge, Seizure, Prominent nose, Anteverted nares, Prominent nasal bridge, Obsess...	OMIM:617796
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Emotional lability, Disinhibition, Frontotemporal dementia, Dysphagia, Motor stereotypy	OMIM:612069
Mitochondrial Myopathy And Sideroblastic Anemia	Microcephaly, Micrognathia, Short nose	ORPHA:2598
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Myoclonic seiz...	OMIM:619383
Intellectual Developmental Disorder, Autosomal Dominant 65	Wide nasal bridge, Seizure, Bulbous nose, Anteverted nares, Micrognathia, Infantile spasms, Aggre...	OMIM:619320
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Generalized myoclonic seizure, Typical absence seizure, Lateral ventricl...	ORPHA:208447
Intellectual Developmental Disorder, Autosomal Recessive 38	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ...	OMIM:615516
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Prominent nasal bridge, Mandibular prognathia, Macrocephaly	OMIM:300676
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Depression, Failure to thrive, Seizure, Secondary microcephaly, Short attention span, Aggressive ...	OMIM:620242
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Anteverted nares, Prominence of the premaxilla, Narrow nasal ridge, Short nose	OMIM:137550
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Mental deterioration, Ventriculomegaly, Craniofacial osteosclerosis, Seizure, Difficulty walking,...	OMIM:618476
Atypical Rett Syndrome	Restrictive behavior, Neonatal seizure, Impaired pain sensation, Limb myoclonus, Seizure, Inabili...	ORPHA:3095
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Impaired temp...	ORPHA:99947
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Seizure, Obesity, Irritability,...	ORPHA:3077
Edinburgh Malformation Syndrome	Choanal atresia, Seizure, Anteverted nares, Micrognathia, Hydrocephalus, Short nose	ORPHA:1895
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Microcephaly, Macrocephaly, Short nose	OMIM:611936
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Proptosis, Delayed eruption of teeth, Attention deficit ...	OMIM:619736
Ring Chromosome 8 Syndrome	Anteverted nares, Short nose	ORPHA:1450
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Microcephaly, Bilateral tonic-clonic seizure, Delayed eruption of...	OMIM:619356
Radio-Tartaglia Syndrome	Wide nasal bridge, Depressed nasal bridge, Retrognathia, Seizure, Bulbous nose, Obesity, Gait imb...	OMIM:619312
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Myoclonic absence seizure, Failure to thrive, Seizure, Increased CSF lactate, I...	OMIM:616034
Al-Raqad Syndrome	Seizure, Inability to walk, Gait ataxia, Deeply set eye, Microcephaly, Short nose	OMIM:616459
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Seizure, Narrow nose, Narrow nasal bridge, Micrognathia, Prominent nas...	OMIM:309520
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ...	ORPHA:33445
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:243180
Rabin-Pappas Syndrome	Wide nasal bridge, Broad nasal tip, Hypoplasia of the pons, Seizure, Retrognathia, Failure to thr...	OMIM:620155
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Choanal atresia, Seizure, Myelomeningocele, Anteverted nares, Hydrocephal...	ORPHA:1914
Smith-Magenis Syndrome	Pain insensitivity, Wide nasal bridge, Mandibular prognathia, Ventriculomegaly, Head-banging, Imp...	OMIM:182290
Rett Syndrome	Failure to thrive, Seizure, Bradykinesia, Difficulty walking, Bruxism, Inability to walk, Abnorma...	ORPHA:778
Frontonasal Dysplasia 1	Wide nasal bridge, Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Cranium bifidum o...	OMIM:136760
Intellectual Developmental Disorder, Autosomal Recessive 13	Wide nasal bridge, Seizure, Secondary microcephaly, Bruxism, Recurrent hand flapping, Hypoteloris...	OMIM:613192
Lujan-Fryns Syndrome	Hypoplasia of the maxilla, Seizure, Micrognathia, Prominent nasal bridge, Attention deficit hyper...	ORPHA:776
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Ventriculomegaly, Hydrocephalus, Seizure	OMIM:304100
5Q14.3 Microdeletion Syndrome	Ventriculomegaly, Seizure, Anteverted nares, Deeply set eye, Motor stereotypy, Short nose	ORPHA:228384
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Prominent nasal bridge, Micrognathia, Hypotelorism, Microcephaly, Primary microc...	OMIM:613544
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic seizure, Seizure	OMIM:616341
Potocki-Lupski Syndrome	Mandibular prognathia, Dental malocclusion, Failure to thrive, Oral-pharyngeal dysphagia, Seizure...	OMIM:610883
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Mandibular prognathia, Depression, Seizure, Re...	ORPHA:449291
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Congenital Toxoplasmosis	Ventriculomegaly, Seizure, Failure to thrive in infancy, Microcephaly, Cognitive impairment, Hydr...	ORPHA:858
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Depression, Seizure, Self-mutilation, Microcephaly, Gait disturbance, Bilateral tonic-clonic seiz...	ORPHA:457240
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Houge-Janssens Syndrome 1	Ventriculomegaly, Seizure, Gait ataxia, Deeply set eye, Hydrocephalus, Macrocephaly, Multifocal s...	OMIM:616355
Den Hoed-De Boer-Voisin Syndrome	Carious teeth, Lateral ventricle dilatation, Secondary microcephaly, Decreased body weight, Ataxi...	OMIM:619229
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Microcephaly, Anteverted nares, Delayed eruption of permanent teeth, Short nose	OMIM:618506
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Ventriculomegaly, Seizure, Progressive macrocephaly, Hydrocephalus	OMIM:602501
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Mandibular prognathia, Cessation of head growth, Seizure, Secondary microcephal...	ORPHA:98794
Pure Autonomic Failure	Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:441
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Leukodystrophy, Hypomyelinating, 10	Failure to thrive, Seizure, Hypoplasia of the brainstem, Secondary microcephaly, Bulbous nose, An...	OMIM:616420
Multiple System Atrophy, Cerebellar Type	Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er...	ORPHA:227510
Proximal 16P11.2 Microdeletion Syndrome	Ventriculomegaly, Failure to thrive, Seizure, Obesity, Micrognathia, Reduced social reciprocity, ...	ORPHA:261197
Houge-Janssens Syndrome 2	Ventriculomegaly, Seizure, Inability to walk, Anteverted nares, Gait ataxia, Microcephaly, Hydroc...	OMIM:616362
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Natal tooth, Seizure, Inability to walk, Micrognathia, Microcephaly, Prog...	OMIM:617802
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Mental deterioration, Seizure, Obesity, Low frustration tolerance, Self...	ORPHA:163681
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Decreased body weight, Microcephaly, Mandibular prognathia, Small for ...	ORPHA:93950
Adams-Oliver Syndrome 2	Depressed nasal bridge, Lateral ventricle dilatation, Seizure, Bulbous nose, Micrognathia, Microc...	OMIM:614219
Potocki-Shaffer Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Seizure, Short nose	OMIM:601224
17P13.3 Microduplication Syndrome	Ventriculomegaly, Hypertelorism, Short nose, Wide nose	ORPHA:217385
Dentici-Novelli Neurodevelopmental Syndrome	Myoclonic seizure, Inability to walk, Epileptic spasm, Prominent nasal bridge, Microcephaly, Bila...	OMIM:619877
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Chorea, Cognitive impairment	ORPHA:309246
X-Linked Intellectual Disability, Cantagrel Type	Ventriculomegaly, Seizure, Short nose	ORPHA:85277
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Depression, Mandibular prognathia, Hydrocephalus, Macrocephaly	OMIM:248000
Adult Krabbe Disease	Abnormal midbrain morphology, Increased CSF protein concentration, Abnormal medulla oblongata mor...	ORPHA:206448
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
9q subtelomeric deletion syndrome	Microcephaly, Anteverted nares, Short nose	DECIPHER:52
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Choanal atresia, Depressed nasal bridge, Ventriculomegaly, Seizure, Bulbous nose, Deeply set eye,...	ORPHA:284169
Weiss-Kruszka Syndrome	Prominent nasal tip, Short nose, Hypertelorism	ORPHA:502430
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Narrow nasal bridge, Micrognathia, Short nose	ORPHA:1514
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Broad nasal tip, Generalized non-motor (absence) seizure, Inability to walk, Bulbous nose, Anteve...	ORPHA:411986
Lowry-Maclean Syndrome	Choanal atresia, Hypoplasia of the maxilla, Retrognathia, Seizure, Micrognathia, Delayed eruption...	ORPHA:2409
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Seizure, Hypoplasia of the brainstem, Anteverted nares, Micrognathia, Hypotelor...	ORPHA:391408
Joubert Syndrome 28	Wide nasal bridge, Hypertelorism, Molar tooth sign on MRI, Ataxia	OMIM:617121
Intellectual Developmental Disorder, X-Linked 21	Seizure, Hypertelorism, Hyperactivity, Short nose, Mandibular prognathia, Impulsivity	OMIM:300143
Fried Syndrome	Aggressive behavior, Gait disturbance, Hydrocephalus	ORPHA:85335
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Ventriculomegaly, Underdeveloped nasal alae, Seizure, Prominent nasal bridge, Micrognathia, Micro...	ORPHA:2083
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Seizure, Micrognathia, Microcephaly, Slender nose, Short nose	OMIM:615419
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Obesity, Hydrocephalus	OMIM:601794
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Failure to thrive, Seizure, Slender build, Deeply set eye, Small for g...	OMIM:608154
Angelman Syndrome	Broad-based gait, Hypoplasia of the maxilla, Mandibular prognathia, Seizure, Secondary microcepha...	OMIM:105830
Malan Syndrome	Ventriculomegaly, Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Macroc...	OMIM:614753
Obesity And Hypopigmentation	Red hair	OMIM:620195
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Seizure, Macrocephaly	OMIM:615191
Orofaciodigital Syndrome Xv	Wide nasal bridge, Ventriculomegaly, Anteverted nares, Molar tooth sign on MRI, Hypertelorism	OMIM:617127
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Lateral ventricle dilatation, Seizure, Anteverted nare...	OMIM:610015
Congenital Disorder Of Glycosylation, Type Iu	Secondary microcephaly, Micrognathia, Seizure, Short nose	OMIM:615042
Aarskog-Scott Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Delayed eruption of teeth, Anteverted nares, Attent...	ORPHA:915
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Depressed nasal bridge, Short nose, Bulbous nose, Overfriendliness, Aggressive...	ORPHA:369891
Temple Syndrome	Depressed nasal bridge, Obesity, Anteverted nares, Micrognathia, Hydrocephalus, Truncal obesity, ...	OMIM:616222
Ritscher-Schinzel Syndrome 4	Wide nasal bridge, Proptosis, Chorea, Hypotelorism, Deeply set eye, Aggressive behavior, Mild fet...	OMIM:619435
Thoracic Dysplasia-Hydrocephalus Syndrome	Depressed nasal ridge, Communicating hydrocephalus, Seizure, Ataxia	ORPHA:1861
Jaberi-Elahi Syndrome	Depressed nasal bridge, Broad-based gait, Failure to thrive, Inability to walk, Gait ataxia, Dysm...	OMIM:617988
Cri-Du-Chat Syndrome	Wide nasal bridge, Microretrognathia, Difficulty walking, Oppositional defiant disorder, Short at...	OMIM:123450
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Proptosis, Hydrocephalus, Convex nasal ridge, Hyperte...	ORPHA:207
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Ventriculomegaly, Proptosis, Seizure, Encephalocele, Cognitive impairment...	ORPHA:93274
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Lateral ventricle dilatation, Seizure, Dilated four...	ORPHA:3078
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Failure to thrive, Seizure, Narrow nasal bridge, Infantile spasms, Irritability, Microcephaly, Bi...	ORPHA:544503
Meckel Syndrome 13	Micrognathia, Occipital encephalocele, Molar tooth sign on MRI, Ataxia	OMIM:617562
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:613870
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Midline brainstem cleft, Hypoplasia of the pons	OMIM:617542
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Proptosis, Seizure, Secondary microcephaly, Anteverted nares, Hypsarrhythmia, ...	OMIM:618437
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Seizure, Malar flattening, Polyphagia, Paroxysmal bursts of laughter, Mi...	ORPHA:228402
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Microcephaly, Short nasal septum, Short nose	OMIM:302950
Blepharophimosis-Impaired Intellectual Development Syndrome	Wide nasal bridge, Dental malocclusion, Seizure, Underdeveloped nasal alae, Anteverted nares, Low...	OMIM:619293
Peho Syndrome	Ventriculomegaly, Seizure, Anteverted nares, Infantile spasms, Malar flattening, Microcephaly, Hy...	ORPHA:2836
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Failure to thr...	OMIM:619179
Rhombencephalosynapsis	Ataxia, Ventriculomegaly, Microretrognathia, Anteverted nares, Hydrocephalus, Macrocephaly, Hyper...	ORPHA:59315
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Mental deterioration, Ventriculomegaly, Failure to thrive, Generalized non-motor (absence) seizur...	ORPHA:395
Baraitser-Winter Syndrome 1	Wide nasal bridge, Ventriculomegaly, Failure to thrive, Seizure, Retrognathia, Anteverted nares, ...	OMIM:243310
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity, Hydrocephalus	ORPHA:2183
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Eruption failure, Seizure, Failure to thrive, Secondary microcephaly, Micrognathia, Gait ataxia, ...	ORPHA:476126
Posttransplant Acute Limbic Encephalitis	Abnormal autonomic nervous system physiology	ORPHA:163921
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Focal impaired awareness seizure, Seizure, Infantile spasms, Deeply set eye, Microcephaly, Tonic ...	OMIM:619428
47,Xyy Syndrome	Seizure, Malar flattening, Reduced social reciprocity, Attention deficit hyperactivity disorder, ...	ORPHA:8
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Prader-Willi Syndrome Due To Translocation	Carious teeth, Lateral ventricle dilatation, Micrognathia, Deeply set eye, Hypertelorism, Motor s...	ORPHA:177907
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Ventriculomegaly, Seizure, Hypoplasia of the brainstem, Short nose, Antev...	OMIM:617822
X-Linked Intellectual Disability, Porteous Type	Bulbous nose, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:93945
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Joubert Syndrome 10	Wide nasal bridge, Obesity, Dysmetria, Decreased body weight, Microcephaly, Molar tooth sign on M...	OMIM:300804
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Seizure, Secondary microcephaly, Micrognathia, Malar flattening, Short...	ORPHA:79113
Adenylosuccinase Deficiency	Seizure, Inability to walk, Inappropriate laughter, Anteverted nares, Gait ataxia, Myoclonus, Sel...	OMIM:103050
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Dental malocclusion, Seizure, Anteverted nares, Abnormality of dental eru...	ORPHA:1327
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Obesity, Hyperactivity, Macrocephaly, Mandibular prognathia	ORPHA:397973
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Proptosis, Hydrocephalus, Hypertelorism	OMIM:612247
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Mandibular prognathia, Cessation of head growth, Seizure, Secondary microcephal...	ORPHA:411511
Bainbridge-Ropers Syndrome	Lateral ventricle dilatation, Micrognathia, Deeply set eye, Hypertelorism, Motor stereotypy, Shor...	OMIM:615485
22Q11.2 Duplication Syndrome	Depressed nasal ridge, Seizure, Micrognathia, Microcephaly, Attention deficit hyperactivity disor...	ORPHA:1727
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn...	ORPHA:3437
Joubert Syndrome 2	Depressed nasal bridge, Enlarged fossa interpeduncularis, Failure to thrive, Seizure, Hypoplasia ...	OMIM:608091
Craniosynostosis, Herrmann-Opitz Type	Micrognathia, Malar flattening, Cognitive impairment, Convex nasal ridge, Hypertelorism, Short nose	ORPHA:2145
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Self-injurious behavior, Depressed nasal bridge, Dilated third ventricle, Head-banging, Failure t...	OMIM:619575
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Seizure, Micrognathia, Gait ataxia, Deeply set eye, Spastic gait, Mandibular prognathia, Short nose	ORPHA:496790
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Anteverted nares, Hydrocephalus, Hypertelorism, Short nose	ORPHA:2701
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Abnormal autonomic nervous system physiology	ORPHA:168593
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Hypotelorism, Deeply set eye, Hy...	OMIM:613604
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Ventriculomegaly, Microretrognathia, Hypoplasia of the zygomatic bone, Seizure...	OMIM:613603
Joubert Syndrome 16	Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation	OMIM:614465
Coffin-Siris Syndrome 6	Depressed nasal bridge, Broad nasal tip, Retrognathia, Seizure, Micrognathia, Attention deficit h...	OMIM:617808
Phelan-Mcdermid Syndrome	Wide nasal bridge, Broad-based gait, Ventriculomegaly, Dental malocclusion, Impaired pain sensati...	OMIM:606232
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Convex nasal ridge	OMIM:156510
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Choanal stenosis, Shallow orb...	OMIM:101600
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:614498
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Pontocerebellar Hypoplasia, Type 7	Wide nasal bridge, Ventriculomegaly, Broad nasal tip, Hypoplasia of the pons, Seizure, Hypoplasia...	OMIM:614969
Achondrogenesis	Anteverted nares, Micrognathia, Short nose, Macrocephaly	ORPHA:932
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Wide nasal bridge, Proptosis, Seizure, Bulbous nose, Hypotelorism, Hyper...	OMIM:613174
Joubert Syndrome 25	Molar tooth sign on MRI	OMIM:616781
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Proptosis, Retrognathia, Seizure, Obesity, Micrognathia, Aggressive behavior, ...	OMIM:620250
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er...	OMIM:169500
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Variant Abeta2M Amyloidosis	Abnormal autonomic nervous system physiology	ORPHA:314652
Galloway-Mowat Syndrome	Seizure, Micrognathia, Hypotelorism, Microcephaly, EEG abnormality, Hypertelorism, Aqueductal ste...	ORPHA:2065
7Q31 Microdeletion Syndrome	Abnormal temper tantrums, Hypoplasia of the maxilla, Prominent nose, Short attention span, Wide n...	ORPHA:251061
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Abnormal temper tantrums, Ventriculomegaly, Dilated third ventricle, Failure to thrive, Seizure, ...	ORPHA:500055
Rett Syndrome, Congenital Variant	Depressed nasal bridge, Seizure, Bruxism, Chorea, Bulbous nose, Reduced social reciprocity, Irrit...	OMIM:613454
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Depressed nasal bridge, Seizure, Micrognathia, Attention deficit hyperactivity disorder, Hydrocep...	ORPHA:459061
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Ventriculomegaly, Hypoplasia of the zygomatic bone, Retrognathia, Abnorma...	ORPHA:1812
Neurodegeneration With Brain Iron Accumulation 2A	Seizure, Decreased nerve conduction velocity, Micrognathia, Abnormality of visual evoked potentia...	OMIM:256600
Peho Syndrome	Retrognathia, Seizure, Myoclonus, Progressive microcephaly, Short nose	OMIM:260565
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Spinal dysraphism, Proptosis, Micrognathia, Encephalocele, Anencephaly, Microc...	ORPHA:1908
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Seizure, Chorea, Infantile spasms, Progressive macrocephaly, Subependymal nodul...	ORPHA:25
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Seizure, Abnormal dental enamel morphology, Ob...	ORPHA:439822
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Short nose	ORPHA:1906
Intellectual Developmental Disorder, Autosomal Recessive 71	Seizure, Deeply set eye, Attention deficit hyperactivity disorder, Macrocephaly, Motor stereotypy	OMIM:618504
Pfeiffer Syndrome Type 2	Choanal atresia, Depressed nasal bridge, Proptosis, Seizure, Malar flattening, Hydrocephalus, Hyp...	ORPHA:93259
Lopes-Maciel-Rodan Syndrome	Seizure, Bruxism, Dysphagia, Unsteady gait, Bradykinesia, Motor stereotypy, Focal impaired awaren...	OMIM:617435
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Febrile seizure (within the age range of 3 months to 6 years), Cleft a...	ORPHA:3044
Non-Distal Duplication 13Q	Micrognathia, Hypotelorism, Microcephaly, Cognitive impairment, Short nose	ORPHA:1702
Distal Deletion 10Q	Wide nasal bridge, Proptosis, Failure to thrive, Seizure, Lateral ventricle dilatation, Prominent...	ORPHA:96148
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Depression, Focal hyperkinetic seizure, Attention deficit hyperactivity disorder, Cognitive impai...	ORPHA:98784
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Hypoplasia of the pons, Seizure, Hypoplasia of the brainstem,...	OMIM:300749
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Extra-axial cerebrospinal fluid accumulation, Impaired pain sensation, Se...	OMIM:619005
Crouzon Syndrome	Hypoplasia of the maxilla, Proptosis, Seizure, Deviated nasal septum, Hydrocephalus, Shallow orbi...	OMIM:123500
Erythermalgia, Primary	Abnormal autonomic nervous system physiology	OMIM:133020
Kleefstra Syndrome Due To 9Q34 Microdeletion	Ventriculomegaly, Depression, Failure to thrive, Seizure, Generalized non-motor (absence) seizure...	ORPHA:96147
Brain Malformations With Or Without Urinary Tract Defects	Ventriculomegaly, Failure to thrive, Seizure, Anteverted nares, Cognitive impairment, Macrocephal...	OMIM:613735
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Cebalid Syndrome	Depressed nasal bridge, Depressed nasal ridge, Seizure, Anteverted nares, Polyphagia, Hypertelori...	OMIM:618774
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Secondary microcephaly, Microcephaly, Hydrocephalus	OMIM:615599
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Ventriculomegaly, Retrognathia, Seizure, Akinesia, Micrognathia, Antevert...	OMIM:608013
Griscelli Syndrome Type 1	Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair	ORPHA:79476
Galloway-Mowat Syndrome 6	Seizure, Anteverted nares, Decreased body weight, Motor stereotypy, Microcephaly, Paroxysmal burs...	OMIM:618347
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Choanal stenosis, Malar flattening	OMIM:241310
Joubert Syndrome 14	Hypoplasia of the brainstem, Prominent nasal bridge, Malar flattening, Encephalocele, Deeply set ...	OMIM:614424
Fg Syndrome Type 1	Choanal atresia, Broad-based gait, Ventriculomegaly, Seizure, Slender build, Prominent nose, Micr...	ORPHA:93932
Early-Onset Autosomal Dominant Alzheimer Disease	Memory impairment, Seizure, Confusion, Myoclonus, Disinhibition, Ataxia, Dementia, Semantic demen...	ORPHA:1020
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Emotional lability, Decreased body weight, Deeply set eye, Cognitive impairment...	OMIM:619475
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Abnormal aut...	ORPHA:330001
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Proptosis, Convex nasal ridge, Hypertelorism, Mandibular prognathia	ORPHA:1540
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity ...	OMIM:620141
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines	OMIM:300495
Acrocephalopolydactyly	Depressed nasal ridge, Short nose, Hypertelorism	ORPHA:221054
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Hydrocephalus, Short nose, Macrocephaly	OMIM:300863
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Macrocephaly, Microcephaly, Gait disturbance, Hydrocephalus, Hypertelorism, Small for gestational...	OMIM:613330
Al-Gazali-Bakalinova Syndrome	Wide nasal bridge, Depressed nasal bridge, Malar flattening, Molar tooth sign on MRI, Macrocephal...	OMIM:607131
Tetrasomy 18P	Microcephaly, Seizure, Short nose	ORPHA:3307
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Ventriculomegaly, Underdeveloped nasal alae, Seizure, Anteverted nares, Meningocele, Biparietal n...	ORPHA:2031
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Prominent nose, Irritability, Deeply set eye, Aggressive behavior, Microcephaly, Hyperactivity, M...	ORPHA:391307
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Seizure, Inability to walk, Micrognathia, Short attention span, Emo...	ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Hypoplasia of the pons, Hypoplasia of the brainstem	OMIM:615181
16P12.1P12.3 Triplication Syndrome	Retrognathia, Failure to thrive, Bulbous nose, Malar flattening, Skin-picking, Attention deficit ...	ORPHA:485405
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Proboscis, Anteverted nares, Microcephaly, Hydrocepha...	OMIM:619895
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Myoclonic seizure, Broad nasal tip, Generalized non-motor (absence) seizure, S...	OMIM:614207
Distal Duplication 18Q	Choanal atresia, Carious teeth, Anteverted nares, Micrognathia, Prominent nasal bridge, Cognitive...	ORPHA:1716
Alazami Syndrome	Seizure, Abnormal eating behavior, Malar flattening, Self-mutilation, Stereotypical hand wringing...	ORPHA:319671
Romano-Ward Syndrome	Abnormal autonomic nervous system physiology	ORPHA:101016
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Ventriculomegaly, Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Sciss...	OMIM:619121
Krabbe Disease	Increased CSF protein concentration, Failure to thrive, Seizure, Decreased nerve conduction veloc...	OMIM:245200
Tetanus	Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology	ORPHA:3299
Marshall-Smith Syndrome	Choanal atresia, Ventriculomegaly, Proptosis, Failure to thrive, Retrognathia, Anteverted nares, ...	ORPHA:561
Achondrogenesis Type 1B	Anteverted nares, Micrognathia, Short nose, Macrocephaly	ORPHA:93298
Tetrasomy 5P	Wide nasal bridge, Failure to thrive, Seizure, Anteverted nares, Micrognathia, Hydrocephalus, Mac...	ORPHA:3309
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, Failure to thrive, EEG with burst suppression, Micrognathia, Hypotelorism, P...	ORPHA:329178
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Proptosis, Short nose	ORPHA:90653
8P23.1 Microdeletion Syndrome	Wide nasal bridge, Seizure, Obesity, Micrognathia, Prominent nasal bridge, Deeply set eye, Microc...	ORPHA:251071
Multicentric Carpotarsal Osteolysis Syndrome	Inability to walk, Hypoplasia of the maxilla, Micrognathia, Proptosis	OMIM:166300
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Seizure, Gait disturbance, EEG abnormality, Hydrocephalus	ORPHA:272
Joubert Syndrome 6	Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Dilated fourth ventricle, Elongate...	OMIM:610688
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Microretrognathia, Abnormality of visual evoked potentials, Short nose	ORPHA:1389
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Holoprosencephaly 7	Hypoplastic nasal septum, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Hypertelorism, ...	OMIM:610828
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Seizure, Micrognathia, Microcephaly, Hydrocephalus, Dandy-Walk...	OMIM:225790
Childhood Absence Epilepsy	Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, Febrile seizure (...	ORPHA:64280
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology	ORPHA:83601
Arachnoid Cyst	Memory impairment, Depression, Enlarged fossa interpeduncularis, Seizure, Inability to walk, Pare...	ORPHA:2356
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Seizure, Anteverted nares, Micrognathia, Hypoplasia of...	OMIM:249620
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Mandibular prognathia, Failure to thrive, Seizure, Malar flattening, Reduced so...	OMIM:300352
Medulloblastoma	Dysmetria, Irritability, Progressive macrocephaly, Lethargy, Cognitive impairment, Hydrocephalus,...	ORPHA:616
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Broad nasal tip, Seizure, Malar flattening, Hydrocephalus, Hypertelorism, Athe...	OMIM:239300
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:466934
Verheij Syndrome	Wide nasal bridge, Broad nasal tip, Retrognathia, Seizure, Anteverted nares, Microcephaly, Short ...	OMIM:615583
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Depressed nasal bridge, Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Inap...	OMIM:615802
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Anteverted nares, Microretrognathia, Biparietal narrowing	ORPHA:228396
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Wide nasal bridge, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure	OMIM:620502
Desmosterolosis	Hypoplastic nasal bridge, Ventriculomegaly, Seizure, Anteverted nares, Micrognathia, Microcephaly...	OMIM:602398
Cadds	Ventriculomegaly, Micrognathia, Seizure, Short nose	ORPHA:369942
Arthrogryposis, Distal, Type 2A	Wide nasal bridge, Abnormal auditory evoked potentials, Failure to thrive, Seizure, Hypoplasia of...	OMIM:193700
Coach Syndrome 2	Hydrocephalus, Molar tooth sign on MRI	OMIM:619111
Joubert Syndrome 3	Wide nasal bridge, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Anteverted nar...	OMIM:608629
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
White-Sutton Syndrome	Self-injurious behavior, Depressed nasal bridge, Mandibular prognathia, Broad nasal tip, Failure ...	OMIM:616364
Obesity, Hyperphagia, And Developmental Delay	Generalized non-motor (absence) seizure, Seizure, Obesity, Polyphagia, Motor stereotypy	OMIM:613886
Achondrogenesis Type 1A	Anteverted nares, Micrognathia, Short nose, Macrocephaly	ORPHA:93299
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Ethmoidal encephalocele, Hypoplasia of the pons	ORPHA:280195
Cohen Syndrome	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Seizure, Prominent...	OMIM:216550
Smith-Kingsmore Syndrome	Depressed nasal bridge, Ventriculomegaly, Seizure, Large for gestational age, Macrocephaly, Hyper...	OMIM:616638
Prolidase Deficiency	Depressed nasal bridge, Proptosis, Failure to thrive, Febrile seizure (within the age range of 3 ...	OMIM:170100
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Failure to thrive, Seizure, Prominent nose, Micrognathia, Aggressive beha...	ORPHA:363528
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Anteverted na...	OMIM:614069
Wiedemann-Steiner Syndrome	Wide nasal bridge, Failure to thrive, Seizure, Short attention span, Low frustration tolerance, A...	ORPHA:319182
Joubert Syndrome With Renal Defect	Seizure, Anteverted nares, Prominent nasal bridge, Encephalocele, Gait disturbance, Hydrocephalus...	ORPHA:220497
Inherited Creutzfeldt-Jakob Disease	Abnormal autonomic nervous system physiology, Vestibular nystagmus	ORPHA:282166
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Proptosis, Short nose	ORPHA:2370
Tenorio Syndrome	Ventriculomegaly, Seizure, Anteverted nares, Emotional lability, Gait disturbance, Hydrocephalus,...	OMIM:616260
Slc35A2-Cdg	Abnormal midbrain morphology, Lateral ventricle dilatation, Seizure, Failure to thrive in infancy...	ORPHA:356961
Mosaic Variegated Aneuploidy Syndrome 1	Depressed nasal bridge, Ventriculomegaly, Small for gestational age, Seizure, Anteverted nares, M...	OMIM:257300
Joubert Syndrome 4	Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ...	OMIM:609583
Joubert Syndrome 9	Ventriculomegaly, Encephalocele, Molar tooth sign on MRI	OMIM:612285
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal temper tantrums, Lateral ventricle dilatation, Seizure, Macrocephaly, Low frustration to...	ORPHA:457279
3P25.3 Microdeletion Syndrome	Depressed nasal bridge, Generalized non-motor (absence) seizure, Prominent nose, Micrognathia, An...	ORPHA:435638
Muscle-Eye-Brain Disease	Seizure, Gait disturbance, Hydrocephalus, Cognitive impairment, Meningocele, Holoprosencephaly	ORPHA:588
Nabais Sa-De Vries Syndrome, Type 1	Self-injurious behavior, Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Deeply set...	OMIM:618828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Hydrocephalus, Dandy-Walke...	OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Inability to walk, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem	OMIM:613155
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Seizure, Bulbous nose, Microcephaly, Mandibular prognathia, Short nose	ORPHA:261144
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Carious teeth, Broad nasal tip, Failure to thrive, Seizure, Anteverted nares, Malar flattening, P...	ORPHA:357074
Melkersson-Rosenthal Syndrome	Facial palsy, Abnormal autonomic nervous system physiology	ORPHA:2483
Neurodegeneration With Brain Iron Accumulation 5	Abnormal autonomic nervous system physiology	OMIM:300894
Intellectual Developmental Disorder, Autosomal Dominant 48	Lateral ventricle dilatation, Seizure, Anteverted nares, Prominent nasal bridge, Dilated fourth v...	OMIM:617751
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Microcephaly, Short nose	OMIM:616910
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:616683
Meckel Syndrome, Type 8	Depressed nasal ridge, Occipital encephalocele, Encephalocele, Microcephaly, Short nose	OMIM:613885
Joubert Syndrome 33	Macrocephaly, Molar tooth sign on MRI, Ataxia	OMIM:617767
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Myoclonic seizure, Prominent nose, Myoclonus, Microcephaly, Tonic seizure, Hydr...	OMIM:617281
Temple Syndrome	Obesity, Small for gestational age, Hydrocephalus	ORPHA:254516
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Broad-based gait, Dental malocclusion, Seizure, Micrognathia, Prominent nasal bridge, Emotional l...	ORPHA:251028
Cutis Laxa, Autosomal Recessive, Type Iib	Failure to thrive, Bulbous nose, Malar flattening, Hypotelorism, Deeply set eye, Microcephaly, Na...	OMIM:612940
Odontochondrodysplasia	Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Short...	ORPHA:166272
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Ventriculomegaly, Retrognathia, Inability to walk, Molar tooth sign on MR...	OMIM:617563
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Meningocele, Anencephaly, Dandy-Walker mal...	OMIM:611134
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Myoclonic seizure, Hypoplasia of the pons, Failure to thrive, Bulbous nose, Micrognathia, Hypotel...	OMIM:619512
Alexander Disease Type Ii	Abnormal autonomic nervous system physiology	ORPHA:363722
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Hyperplasia of the maxilla, Seizure, Aggressive behavior, Attention defi...	ORPHA:313892
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Coffin-Lowry Syndrome	Depressed nasal bridge, Ventriculomegaly, Craniofacial hyperostosis, Hypoplasia of the maxilla, D...	ORPHA:192
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Microcephaly, Focal-onset seizure	ORPHA:398189
Aarskog-Scott Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Failure to thrive, Anteverted nares, Attention defi...	OMIM:305400
Fetal Trimethadione Syndrome	Depressed nasal bridge, Microcephaly, Micrognathia, Short nose	ORPHA:1913
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Seizure, Prominent nose, Decreased body weight, Prominence of the premaxilla, ...	OMIM:614886
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Ventriculomegaly, Difficulty walking, Generalized-onset seizure, Gait ataxia, M...	OMIM:617807
Beemer-Ertbruggen Syndrome	Wide nasal bridge, Bulbous nose, Communicating hydrocephalus, Micrognathia	ORPHA:1237
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wide nasal bridge, Ventriculomegaly, Anteverted nares, Micrognathia, Microcephaly, Hypertelorism,...	OMIM:616897
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Mandibular prognathia, Short nose, Wide nose	ORPHA:2831
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Donnai-Barrow Syndrome	Depressed nasal bridge, Proptosis, Seizure, Macrocephaly, Hypertelorism, Short nose	ORPHA:2143
Infantile Neuroaxonal Dystrophy	Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal autonomic nervous system phys...	ORPHA:35069
3Q29 Microdeletion Syndrome	Depression, Failure to thrive, Prominent nasal bridge, Aggressive behavior, Attention deficit hyp...	ORPHA:65286
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Seizure, Bulbous nose, Microcephaly, Colpocephaly, Hydrocephalus, Macrocephaly,...	OMIM:615219
Toluene Embryopathy	Hypoplasia of the zygomatic bone, Micrognathia, Microcephaly, Biparietal narrowing, Short nose	ORPHA:1920
Haddad Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:99803
Trigonocephaly 1	Wide nasal bridge, Microcephaly, Short nose	OMIM:190440
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Wide nasal bridge, Depressed nasal bridge, Seizure, Febrile seizure (within the age range of 3 mo...	OMIM:620073
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Wide nasal bridge, Depressed nasal bridge, Prominent nose, Anteverted nares, Deeply set eye, Bila...	OMIM:618316
Pterygium Colli, Isolated	Short nose	OMIM:177990
2Q37 Microdeletion Syndrome	Depressed nasal bridge, Broad columella, Seizure, Underdeveloped nasal alae, Obesity, Anteverted ...	ORPHA:1001
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Seizure, Epileptic spasm, Anteverted nares, Micrognathia, Myoclonus, Bila...	ORPHA:314655
Warburg Micro Syndrome 3	Ventriculomegaly, Myoclonic seizure, Secondary microcephaly, Inability to walk, Micrognathia, Mic...	OMIM:614222
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Wide nasal bridge, Microretrognathia, Seizure, Motor stereotypy, Macroce...	ORPHA:397612
Rett Syndrome	Seizure, Secondary microcephaly, Bruxism, Gait ataxia, Stereotypical hand wringing, Cachexia, Mot...	OMIM:312750
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Macr...	OMIM:615398
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Seizure, Anteverted nares, Malar flattening, Deeply set eye, Attention de...	ORPHA:357001
Inverted Duplicated Chromosome 15 Syndrome	Broad nasal tip, Seizure, Deeply set eye, Aggressive behavior, Microcephaly, Hyperactivity, Self-...	ORPHA:3306
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Infantile Sialic Acid Storage Disease	Anteverted nares, Failure to thrive, Hydrocephalus, Seizure	OMIM:269920
Peroxisome Biogenesis Disorder 4B	Ataxia, Seizure, Decreased nerve conduction velocity, Gait disturbance, Macrocephaly, Hypertelori...	OMIM:614863
Joubert Syndrome 30	Ventriculomegaly, Dandy-Walker malformation, Molar tooth sign on MRI	OMIM:617622
1P21.3 Microdeletion Syndrome	Self-injurious behavior, Broad nasal tip, Obesity, Abnormal eating behavior, Micrognathia, Self-m...	ORPHA:293948
Acromicric Dysplasia	Bulbous nose, Anteverted nares, Short nose	ORPHA:969
Thanatophoric Dysplasia	Depressed nasal bridge, Ventriculomegaly, Proptosis, Seizure, Hydrocephalus, Macrocephaly	ORPHA:2655
1Q44 Microdeletion Syndrome	Ventriculomegaly, Micrognathia, Microcephaly, Hydrocephalus, Bilateral tonic-clonic seizure, Hype...	ORPHA:238769
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Microretrognathia, Seizure, Difficulty walking, Bulbous nose, Inability to wal...	OMIM:618571
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology	OMIM:614575
Corpus Callosum Agenesis-Neuronopathy Syndrome	EEG abnormality, Aqueductal stenosis, Microcephaly, Seizure	ORPHA:1496
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge, Hypoplasia of the maxilla, Hydrocephalus, Hypertelorism, Mandibular prognathia	OMIM:601499
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Ventriculomegaly, Seizure, Hydrocephalus, Macrocephaly, Hypertelorism	OMIM:175700
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth, Tr...	OMIM:616367
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Impaired pain sensation, Bulbous nose, Anteverted nares, Hypotelorism, Absent ...	ORPHA:261211
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Cessation of head growth, Ventriculomegaly, Failure to thrive, Seizure, Generalized-onset seizure...	OMIM:617527
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Lateral ventricle dilatation, Bulbous nose, Anteverted nares, Microcephal...	OMIM:614105
Dislocation Of The Hip-Dysmorphism Syndrome	Wide nasal bridge, Depressed nasal ridge, Anteverted nares, Malar flattening, Prominence of the p...	ORPHA:2412
Joubert Syndrome With Oculorenal Defect	Seizure, Anteverted nares, Prominent nasal bridge, Encephalocele, Hydrocephalus, Molar tooth sign...	ORPHA:2318
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla	OMIM:264270
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
Dysostosis, Stanescu Type	Hypoplasia of the maxilla, Carious teeth, Proptosis, Hypoplasia of the zygomatic bone, Abnormal d...	ORPHA:1798
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Obesity, Anteverted nares, Malar flattening, Hyperactivity, Mandibular pr...	OMIM:614613
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Failure to thrive, Anteverted nares, Micrognathia, Malar flattening, Sinu...	OMIM:242860
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness...	ORPHA:100924
Emanuel Syndrome	Broad jaw, Ventriculomegaly, Failure to thrive, Seizure, Micrognathia, Recurrent sinusitis, Delay...	OMIM:609029
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia	OMIM:246560
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Wide nasal bridge, Ventriculomegaly, Seizure, Anteverted nares, Enamel agenesis, Hypotelorism, Mi...	OMIM:614701
Cerebrofacioarticular Syndrome	Self-injurious behavior, Wide nasal bridge, Hypoplasia of the maxilla, Ventriculomegaly, Bilatera...	ORPHA:314679
Dural Sinus Malformation	Mental deterioration, Myelopathy, Somatic sensory dysfunction, Seizure, Proptosis, Macrocephaly, ...	ORPHA:97339
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Hypoplasia of the pons, Failure to t...	OMIM:616430
Joubert Syndrome With Ocular Defect	Seizure, Anteverted nares, Prominent nasal bridge, Encephalocele, Gait disturbance, Hydrocephalus...	ORPHA:220493
Dermotrichic Syndrome	Depressed nasal bridge, Seizure, Short nose	ORPHA:99688
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Mandibular osteomyelitis, Seizure, Persistence of primary teeth, Hydrocephalus, Ma...	OMIM:259710
Premature Aging Syndrome, Penttinen Type	Hypoplasia of the maxilla, Proptosis, Failure to thrive, Delayed eruption of teeth, Retrognathia,...	OMIM:601812
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Micrognathia, Short nose	OMIM:614744
Tetrasomy 12P	Delayed eruption of teeth, Anteverted nares, Cachexia, Hypertelorism, Short nose	ORPHA:884
Mandibulofacial Dysostosis, Guion-Almeida Type	Choanal atresia, Seizure, Anteverted nares, Micrognathia, Malar flattening, Microcephaly, Progres...	OMIM:610536
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology	ORPHA:85451
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Failure to thrive, Seizure, Retrognathia, Secondary microcephaly, Anteverted nares, Hydrocephalus...	OMIM:612938
Fatal Familial Insomnia	Abnormal autonomic nervous system physiology	OMIM:600072
8Q22.1 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Microcephaly, Abnormal nostr...	ORPHA:178303
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene...	ORPHA:352731
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hypertelorism	OMIM:167730
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Depressed nasal bridge, Retrognathia, Generalized non-motor (absence) se...	ORPHA:457351
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Depression, Failure to thrive, Seizure, Bulbous nose, Deeply set eye, Microcep...	ORPHA:250989
Joubert Syndrome 15	Exencephaly, Molar tooth sign on MRI	OMIM:614464
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio...	OMIM:257850
4Q21 Microdeletion Syndrome	Self-injurious behavior, Depressed nasal bridge, Ventriculomegaly, Seizure, Hypertelorism, Motor ...	ORPHA:238750
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Memory impairment, Focal myoclonic seizure, Bulbous nose, Anteverted nares, Macrocephaly, Dysmetr...	ORPHA:314647
Kleefstra Syndrome	Self-injurious behavior, Mandibular prognathia, Ventriculomegaly, Delayed eruption of teeth, Seiz...	ORPHA:261494
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:231550
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Proptosis, Hypertelorism, Aqueductal stenosis, Short nose	ORPHA:93258
Joubert Syndrome 7	Brainstem dysplasia, Encephalocele, Molar tooth sign on MRI, Hypoplasia of the brainstem	OMIM:611560
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Mandibular prognathia, Amelogenesis imperfecta	OMIM:601216
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Malar flattening, Short nose	OMIM:614524
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Depressed nasal ridge, Micrognathia, Hydrocephalus, Short nose	ORPHA:163966
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Broad-based gait, Emotional lability, Hair-pulling, Polyphagia, Prominent nasal tip, Motor stereo...	OMIM:620330
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Micrognathia, Malar flattening, Short nose	ORPHA:93328
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Seizure, Persistence of primary teeth, Obesity, Anteverted na...	OMIM:610253
Whipple Disease	Ataxia, Depression, Polydipsia, Proptosis, Seizure, Myoclonus, Cachexia, Hydrocephalus, Anorexia	ORPHA:3452
7Q11.23 Microduplication Syndrome	Micrognathia, Deeply set eye, Polyphagia, Hypertelorism, Unsteady gait, Motor stereotypy, Self-in...	ORPHA:96121
Joubert Syndrome 37	Wide nasal bridge, Obesity, Anteverted nares, Deeply set eye, Molar tooth sign on MRI, Hypertelor...	OMIM:619185
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Abnormal autonomic nervous system physiology	OMIM:617903
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Occipital encephalocele, Hypoplasia of the pons, Hypoplasia of the brainstem, A...	ORPHA:370959
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventriculomegaly, Seizure, Anteverted nares, Prominent nasal bridge, Microcephaly, Macrocephaly, ...	ORPHA:500159
Desmosterolosis	Depressed nasal bridge, Ventriculomegaly, Failure to thrive, Seizure, Abnormality of the nose, Re...	ORPHA:35107
Multiple Sulfatase Deficiency	Depressed nasal bridge, Seizure, Anteverted nares, Microcephaly, Hydrocephalus, Macrocephaly	ORPHA:585
6P22 Microdeletion Syndrome	Hydrocephalus, Hypotelorism, Deeply set eye	ORPHA:251046
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Depressed nasal bridge, Head-banging, Seizure, Bulbous nose, Frequent temper tantrums, Motor ster...	OMIM:619103
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Secondary microcephaly, Infantile spasms, Irritability...	ORPHA:447997
Megalocornea-Intellectual Disability Syndrome	Wide nasal bridge, Seizure, Macrocephaly, Micrognathia, Microcephaly, Hypertelorism, Ataxia, Moto...	ORPHA:2479
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Joubert Syndrome	Seizure, Anteverted nares, Prominent nasal bridge, Encephalocele, Gait disturbance, Hydrocephalus...	ORPHA:475
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Ventriculomegaly, Seizure, Underdeveloped nasal alae, Bulbous nose, Microcepha...	OMIM:615803
Muenke Syndrome	Proptosis, Macrocephaly, Malar flattening, Hydrocephalus, Hypertelorism	ORPHA:53271
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Proptosis, Hypoplasia of th...	ORPHA:560
Amyloidosis, Hereditary Systemic 1	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology	OMIM:105210
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Proptosis, Retrognathia, Seizure, Anteverted nares, Sh...	ORPHA:363659
Tremor-Ataxia-Central Hypomyelination Syndrome	Autonomic bladder dysfunction, Optic atrophy	ORPHA:447896
Coffin-Siris Syndrome 7	Depressed nasal bridge, Thick nasal alae, Anteverted nares, Hyperactivity, Convex nasal ridge, Hy...	OMIM:618027
Japanese Encephalitis	Abnormal midbrain morphology, Increased CSF protein concentration, Decreased motor nerve conducti...	ORPHA:79139
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Secondary microcephaly, Bruxism, Anteverted nares, Bilateral tonic-clonic seizu...	OMIM:616351
Intellectual Developmental Disorder, Autosomal Dominant 38	Self-injurious behavior, Depressed nasal bridge, Bruxism, Infantile spasms, Hair-pulling, Deeply ...	OMIM:616393
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Proptosis, Seizure, Large for gestational age, Prominent nasal bridge, Gait ata...	OMIM:617011
Acquired Aneurysmal Subarachnoid Hemorrhage	Memory impairment, Seizure, Increased CSF lactate, Addictive alcohol use, Cognitive impairment, H...	ORPHA:90065
Developmental And Epileptic Encephalopathy 2	Seizure, Inability to walk, Generalized-onset seizure, Anteverted nares, Infantile spasms, Myoclo...	OMIM:300672
Joubert Syndrome 35	Depressed nasal bridge, Anteverted nares, Elongated superior cerebellar peduncle, Molar tooth sig...	OMIM:618161
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Seizure, Generalized-onset seizure,...	OMIM:613457
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Short nose, Macrocephaly	OMIM:614732
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411515
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Retrognathia, Seizure, Micrognathia, Hypotelorism, Colpocephaly, Hydrocephalus	OMIM:620156
Molybdenum Cofactor Deficiency, Type B	Ventriculomegaly, Seizure, Macrocephaly, Irritability, Microcephaly, Bilateral tonic-clonic seizu...	OMIM:252160
Andersen Cardiodysrhythmic Periodic Paralysis	Hypoplasia of the maxilla, Depression, Bulbous nose, Persistence of primary teeth, Micrognathia, ...	OMIM:170390
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Ventriculomegaly, Failure to thrive, Deeply set eye, Hydrocephalus, Macro...	ORPHA:60040
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Microform Holoprosencephaly	Choanal atresia, Seizure, Narrow nasal bridge, Anteverted nares, Midnasal stenosis, Microcephaly,...	ORPHA:280200
Glutaric Acidemia I	Lateral ventricle dilatation, Failure to thrive, Seizure, Hydrocephalus, Macrocephaly, Choreoathe...	OMIM:231670
Machado-Joseph Disease	Abnormal autonomic nervous system physiology	OMIM:109150
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Self-injurious behavior, Wide nasal bridge, Mandibular prognathia, Failure to thrive, Seizure, Bu...	OMIM:620494
B4Galt1-Cdg	Wide nasal bridge, Hydrocephalus, Hypertelorism, Small for gestational age, Dandy-Walker malforma...	ORPHA:79332
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Autism, Susceptibility To, 3	Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ...	OMIM:608049
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Febrile seizure (withi...	OMIM:613026
Developmental And Epileptic Encephalopathy 100	Depressed nasal bridge, Ventriculomegaly, Myoclonic seizure, Typical absence seizure, Broad nasal...	OMIM:619777
Cutis Laxa, Autosomal Recessive, Type Iia	Carious teeth, Failure to thrive, Seizure, Anteverted nares, Malar flattening, Microcephaly, Shor...	OMIM:219200
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Micrognathia, Proptosis, Short nose	OMIM:614078
Orofaciodigital Syndrome Ii	Depressed nasal bridge, Bifid nasal tip, Broad nasal tip, Hypoplasia of the maxilla, Micrognathia...	OMIM:252100
Trisomy 10P	Depressed nasal bridge, Abnormal auditory evoked potentials, Abnormality of the nose, Seizure, Re...	ORPHA:171929
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Proptosis, Anteverted nares, Hypertelorism, Short nose	OMIM:618961
3C Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Micrognathia, Hydrocephalus, Dandy-W...	ORPHA:7
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Broad nasal tip, Proptosis, Anteverted nares, Micrognathia, Hypertelorism, Rel...	OMIM:618529
Fetal Alcohol Syndrome	Anteverted nares, Micrognathia, Microcephaly, Cognitive impairment, Biparietal narrowing, Short nose	ORPHA:1915
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Retrognathia, Seizure, Failure to thrive, Prominent nasal bridge, Self-mut...	OMIM:212066
Trisomy 1Q	Depressed nasal bridge, Ventriculomegaly, Microretrognathia, Hypotelorism, Hydrocephalus, Macroce...	ORPHA:261344
Orofaciodigital Syndrome Type 6	Broad nasal tip, Failure to thrive, Seizure, Prominent nasal bridge, Micrognathia, Gait disturban...	ORPHA:2754
Helsmoortel-Van Der Aa Syndrome	Carious teeth, Lateral ventricle dilatation, Polyphagia, Hypertelorism, Dysphagia, Motor stereoty...	OMIM:615873
Diamond-Blackfan Anemia 8	Wide nasal bridge, Short nose	OMIM:612563
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology	OMIM:256800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Ventriculomegaly, Broad nasal tip, Seizure, Microcephaly, Short nose	OMIM:614749
Apert Syndrome	Depressed nasal bridge, Choanal atresia, Ventriculomegaly, Hypoplasia of the maxilla, Delayed eru...	ORPHA:87
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Short nose, Hypertelorism	OMIM:300887
Holoprosencephaly	Encephalocele, Deeply set eye, Cognitive impairment, Hypertelorism, Cyclopia, Holoprosencephaly, ...	ORPHA:2162
Nmda Receptor Encephalitis	Mania, Memory impairment, Depression, Seizure, Generalized-onset seizure, Confusion, Chorea, CSF ...	ORPHA:217253
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly, Malar flattening, Seizure	OMIM:218350
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Postnatal macrocephaly, Obesity, Large for gestational age, Short attenti...	OMIM:605309
Alexander Disease	Failure to thrive, Seizure, Macrocephaly, Chorea, Gait disturbance, Hydrocephalus, EEG abnormalit...	ORPHA:58
Acrodysostosis	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Dela...	ORPHA:950
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Failure to thrive, Seizure, Microcephaly, Hypertelorism, Short nose	OMIM:608776
Acrodysostosis 1 With Or Without Hormone Resistance	Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Dental malocclusion, Delayed ...	OMIM:101800
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Retrognathia, Seizure, Microcephaly, Attention deficit hyperactivity diso...	OMIM:301030
Trisomy 12P	Wide nasal bridge, Proptosis, Micrognathia, Malar flattening, Hypertelorism, Short nose	ORPHA:1699
Codas Syndrome	Depressed nasal bridge, Delayed eruption of teeth, Abnormal dental enamel morphology, Anteverted ...	ORPHA:1458
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Hypoplasia of the maxilla, Large for gestational age, Micrognathia, Anteverted...	OMIM:213980
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Ventriculomegaly, Generalized-onset seizure, Anteverted nares, Microcepha...	ORPHA:261236
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Griscelli Syndrome Type 2	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair	ORPHA:79477
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Proptosis, Seizure, Hypertelorism, Aqueductal stenosis, ...	ORPHA:93260
Frontofacionasal Dysplasia	Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depressed nasal bridge, Encephalocele, D...	ORPHA:1791
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Wide nasal bridge, Ventriculomegaly, Macrodontia of permanent maxil...	ORPHA:444072
Hydrocephaly-Low Insertion Umbilicus Syndrome	Long nose, Communicating hydrocephalus, Wide nose	ORPHA:2184
Joubert Syndrome 27	Gait ataxia, Molar tooth sign on MRI, Ataxia	OMIM:617120
Trisomy 17P	Thick nasal alae, Prominent nose, Micrognathia, Malar flattening, Microcephaly, Hydrocephalus, Hy...	ORPHA:261290
Alobar Holoprosencephaly	Depressed nasal ridge, Depression, Failure to thrive, Seizure, Proboscis, Inability to walk, Hypo...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depressed nasal ridge, Depression, Failure to thrive, Seizure, Proboscis, Inability to walk, Hypo...	ORPHA:93926
Lobar Holoprosencephaly	Depressed nasal ridge, Depression, Failure to thrive, Seizure, Proboscis, Inability to walk, Hypo...	ORPHA:93924
Semilobar Holoprosencephaly	Depressed nasal ridge, Depression, Failure to thrive, Seizure, Proboscis, Inability to walk, Hypo...	ORPHA:220386
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Anteverted nares, M...	OMIM:615866
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Seizure, Bulbous nose, Narrow nose, ...	OMIM:618454
Rauch-Steindl Syndrome	Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Micrognathia, Aggressive behavior, ...	OMIM:619695
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	OMIM:617044
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Distal senso...	OMIM:616007
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Abnormal autonomic nervous system physiology	ORPHA:478029
Ritscher-Schinzel Syndrome 1	Depressed nasal bridge, Micrognathia, Hydrocephalus, Hypertelorism, Dandy-Walker malformation	OMIM:220210
Raine Syndrome	Choanal atresia, Depressed nasal bridge, Natal tooth, Proptosis, Micrognathia, Malar flattening, ...	OMIM:259775
Emanuel Syndrome	Broad jaw, Ventriculomegaly, Failure to thrive, Seizure, Delayed eruption of teeth, Micrognathia,...	ORPHA:96170
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Hypoplasia of the maxilla, Proptosis, Failure to thrive, Retrognathia, Antevert...	ORPHA:2462
Optic Pathway Glioma	Proptosis, Hydrocephalus, Seizure	ORPHA:2086
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Micrognathia, Short nose	ORPHA:2547
Atelosteogenesis, Type Iii	Depressed nasal bridge, Hypoplasia of the maxilla, Micrognathia, Malar flattening	OMIM:108721
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, Microretrognathia, Proptosis, Macrocephaly, Hydrocephalus, Hypertelorism	OMIM:616294
Cerebrooculonasal Syndrome	Ventriculomegaly, Proboscis, Seizure, Anteverted nares, Prominent nasal bridge, Malar flattening,...	OMIM:605627
Oculodentodigital Dysplasia	Carious teeth, Abnormality of the nose, Seizure, Underdeveloped nasal alae, Broad columella, Abno...	ORPHA:2710
Monosomy 18Q	Depressed nasal bridge, Mandibular prognathia, Failure to thrive, Seizure, Slender build, Bulbous...	ORPHA:1600
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Axenfeld-Rieger Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hypertelorism	ORPHA:782
Lhermitte-Duclos Disease	Macrocephaly, Hydrocephalus, Seizure, Ataxia	ORPHA:65285
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic sinusitis, ...	OMIM:618699
Holoprosencephaly 9	Choanal atresia, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the premaxilla, Single na...	OMIM:610829
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Failure to thrive, Seizure, Retrognathia, Microcephaly, Enamel hypoplasia, Hydr...	OMIM:614576
Kagami-Ogata Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Seizure, Anteverted nares, Micro...	OMIM:608149
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Dental malocclusion, Failure to thrive, Seizure, Proptosis, Bulbous nose,...	OMIM:115150
Desbuquois Dysplasia 1	Depressed nasal bridge, Microretrognathia, Proptosis, Obesity, Malar flattening, Concave nasal ri...	OMIM:251450
Pycnodysostosis	Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Proptosis, Prominent nose, Microgn...	ORPHA:763
Spinocerebellar Ataxia-Dysmorphism Syndrome	Spina bifida occulta, Anteverted nares, Short nose, Macrocephaly	ORPHA:1185
10Q22.3Q23.3 Microdeletion Syndrome	Depressed nasal bridge, Microretrognathia, Failure to thrive, Seizure, Anteverted nares, Hypotelo...	ORPHA:276413
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Ventriculomegaly, Proptosis, Difficulty walking, Slender build, Large for gestational age, Promin...	ORPHA:457359
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Prominent nasal bridge, Microretrognathia, Macrocephaly	ORPHA:1307
Primary Dystonia, Dyt13 Type	Motor stereotypy	ORPHA:98807
Hypomandibular Faciocranial Dysostosis	Proptosis, Anteverted nares, Choanal stenosis, Cognitive impairment, Maxillozygomatic hypoplasia,...	ORPHA:1790
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Seizure, Malar flattening, Hydrocephalus, Macrocephaly, Hypertelorism, Da...	OMIM:612582
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Rapid neurologic deterioration, Anteverted...	OMIM:272200
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Failure to thrive, Anteverted nares, Malar flattening, Deeply set eye, Co...	OMIM:613038
Microcephaly-Micromelia Syndrome	Micrognathia, Neonatal death, Microcephaly, Convex nasal ridge, Aqueductal stenosis, Wide nose	OMIM:251230
Spinal Cord Injury	Abnormal autonomic nervous system physiology	ORPHA:90058
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Proptosis, Seizure, Malar flattening, Macrocephaly, Hype...	OMIM:222448
Genitopalatocardiac Syndrome	Wide nasal bridge, Micrognathia, Microcephaly, Hydrocephalus, Hypertelorism	ORPHA:2075
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Seizure, Malar flattening, Deeply set eye, Hydrocephalus, Long nose, Shor...	OMIM:618590
Choreoacanthocytosis	Mental deterioration, Temporomandibular joint crepitus, Lateral ventricle dilatation, Emotional l...	ORPHA:2388
Kinsship Syndrome	Ventriculomegaly, Failure to thrive, Generalized non-motor (absence) seizure, Bruxism, Bulbous no...	OMIM:619297
Albers-Schönberg Osteopetrosis	Hydrocephalus, Carious teeth, Mandibular osteomyelitis, Macrocephaly	ORPHA:53
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Failure to thrive, Underdeveloped nasal alae, Cleft mandible, Bulbous nose, Short columella, Prom...	ORPHA:364577
Stromme Syndrome	Wide nasal bridge, Short columella, Prominent nasal bridge, Micrognathia, Deeply set eye, Microce...	OMIM:243605
Al Amyloidosis	Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tachycardia,...	ORPHA:85443
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Seizure, Large for gestational age, Anteverted nares, Micrognathia, Macro...	OMIM:614080
Bartsocas-Papas Syndrome	Microcephaly, Micrognathia, Underdeveloped nasal alae, Short nose	ORPHA:1234
Cerebral Visual Impairment	Seizure, Short attention span, Microcephaly, Attention deficit hyperactivity disorder, Hydrocephalus	ORPHA:447788
Cardioacrofacial Dysplasia 1	Overhanging nasal tip, Hypoplasia of the maxilla	OMIM:619142
Triploidy	Micrognathia, Hydrocephalus, Macrocephaly, Meningocele, Holoprosencephaly, Hypertelorism	ORPHA:3376
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Deeply set eye, Ataxia, Dysphagia, Short nose, Broad nasal tip, Failure to thri...	ORPHA:268261
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Flared nostrils, Broad-based gait, Seizure, Bulbous nose, Anteverted nares, Micrognathia, Gait at...	OMIM:614756
Lambert-Eaton Myasthenic Syndrome	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology	ORPHA:43393
Coach Syndrome 1	Occipital encephalocele, Seizure, Anteverted nares, Encephalocele, Molar tooth sign on MRI, Ataxi...	OMIM:216360
Chiari Malformation Type Ii	Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida	OMIM:207950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Seizure, Microcephaly, Tonic seizure, Progressive microcephaly, Hydrocephalus	OMIM:615249
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Short nose	ORPHA:163649
Meckel Syndrome, Type 10	Occipital encephalocele, Dilated fourth ventricle, Molar tooth sign on MRI, Anencephaly, Dandy-Wa...	OMIM:614175
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Hydrocephalus, Seizure, Macrocephaly	OMIM:603387
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Peg-shaped maxillary lateral incisors, Abnormalit...	ORPHA:199306
Icf Syndrome	Depressed nasal bridge, Macrocephaly, Micrognathia, Hypertelorism, Communicating hydrocephalus	ORPHA:2268
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Depressed nasal tip, Mic...	ORPHA:2399
Joubert Syndrome 1	Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Hemifacial spasm, Macrocephaly, Br...	OMIM:213300
Mucopolysaccharidosis Type 3	Abnormal temper tantrums, Craniofacial hyperostosis, Ventriculomegaly, Seizure, Dementia, Thick n...	ORPHA:581
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Hypoplasia of the zygomatic bone, Hypertelorism, Abnormal nostril morphology, Short nose	ORPHA:1295
Lathosterolosis	Seizure, Bulbous nose, Anteverted nares, Micrognathia, Myoclonus, Microcephaly, Meningocele, Bipa...	ORPHA:46059
Marfanoid-Progeroid-Lipodystrophy Syndrome	Proptosis, Retrognathia, Narrow nose, Prominent nasal bridge, Deeply set eye, Narrow nasal ridge,...	OMIM:616914
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Obesity, Hydrocephalus	OMIM:615630
Plasminogen Deficiency, Type I	Ventriculomegaly, Recurrent upper respiratory tract infections, Hydrocephalus, Macrocephaly, Dand...	OMIM:217090
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology	ORPHA:247234
Ataxia-Telangiectasia	Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair	ORPHA:100
Okur-Chung Neurodevelopmental Syndrome	Wide nasal bridge, Atonic seizure, Failure to thrive, Frequent temper tantrums, Micrognathia, Rec...	OMIM:617062
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Depressed nasal bridge, Ventriculomegaly, Proptosis, Focal myoclonic seizure, Seizure, Inability ...	ORPHA:508533
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Retrognathia, Encephalocele, Decreased body weight, Microcephaly, H...	ORPHA:314621
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Short-segment aganglionic megacolon, Decreased nerve conduction velocity, Aganglionic megacolon, ...	OMIM:609136
Distal 22Q11.2 Microduplication Syndrome	Depressed nasal ridge, Seizure, Bulbous nose, Micrognathia, Deeply set eye, Microcephaly, Attenti...	ORPHA:261337
Even-Plus Syndrome	Bifid nasal tip, Depressed nasal ridge, Short nose	OMIM:616854
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Micrognathia, Short nose	ORPHA:93329
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Communicating hydrocephalus	ORPHA:1064
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl...	ORPHA:99027
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Prominent nasal bridge, Microretrognathia, Malar flattening	ORPHA:1788
Young-Onset Parkinson Disease	Abnormal autonomic nervous system physiology	ORPHA:2828
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Natal tooth, Anteverted nares, Micrognathia, Hypertelo...	OMIM:145420
Phosphoribosylaminoimidazole Carboxylase Deficiency	Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de...	OMIM:619859
Hydrolethalus	Retrognathia, Micrognathia, Abnormality of the sense of smell, Deeply set eye, Hydrocephalus, Ane...	ORPHA:2189
Parkinson Disease, Late-Onset	Abnormal autonomic nervous system physiology	OMIM:168600
Robinow Syndrome, Autosomal Dominant 2	Depressed nasal bridge, Dental malocclusion, Proptosis, Anteverted nares, Micrognathia, Calvarial...	OMIM:616331
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Joubert Syndrome 8	Obesity, Occipital encephalocele, Molar tooth sign on MRI	OMIM:612291
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Proptosis, Micrognathia, Shallow orbits, Hydrocephalus, Communicating ...	OMIM:112240
Martsolf Syndrome 1	Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Ventriculomegaly, Micrognathi...	OMIM:212720
Oculodentodigital Dysplasia	Carious teeth, Seizure, Underdeveloped nasal alae, Narrow nose, Narrow nasal bridge, Anteverted n...	OMIM:164200
Acrofacial Dysostosis, Catania Type	Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone, Microcephaly, Spina bifida oc...	ORPHA:1786
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Prominent nasal bridge, Short nose, Hypertelorism	ORPHA:401935
Porphyria Variegata	Abnormal autonomic nervous system physiology	ORPHA:79473
Rubinstein-Taybi Syndrome 1	Micrognathia, Deeply set eye, Hypertelorism, Unsteady gait, Hypoplasia of the maxilla, Short atte...	OMIM:180849
Metatropic Dysplasia	Depressed nasal bridge, Hydrocephalus	ORPHA:2635
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Broad-based gait, Ventriculomegaly, Failure to thrive, Hyperplasia of the...	ORPHA:513456
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Secondary microcephaly, Micrognath...	ORPHA:496641
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Failure to thrive, Seizure, Hypoplasia of the brainstem, Microcephaly, Hydrocep...	ORPHA:2169
Trisomy 20P	Abnormal autonomic nervous system physiology	ORPHA:261318
Micro Syndrome	Wide nasal bridge, Seizure, Anteverted nares, Micrognathia, Microcephaly, Short nose	ORPHA:2510
Pitt-Hopkins Syndrome	Self-injurious behavior, Flared nostrils, Wide nasal bridge, Ventriculomegaly, Seizure, Secondary...	OMIM:610954
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Failure to thrive, Seizure, Hydrocephalus, Calvarial osteosclerosis, Macrocephaly	OMIM:259700
Femoral-Facial Syndrome	Ventriculomegaly, Micrognathia, Short nose	ORPHA:1988
Microlissencephaly-Micromelia Syndrome	Failure to thrive, Seizure, Secondary microcephaly, EEG abnormality, Short nose	ORPHA:50810
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Seizure, Anteverted nares, Malar flattening, Absent frontal sinuses, Moto...	OMIM:301040
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Wide nasal bridge, Seizure, Hypoplasia of the brainstem, Secondary microcephaly, Dilated fourth v...	OMIM:619306
Plaa-Associated Neurodevelopmental Disorder	Ventriculomegaly, Failure to thrive, Seizure, Micrognathia, Microcephaly, Hypsarrhythmia, Short nose	ORPHA:521426
Thanatophoric Dysplasia Type 1	Depressed nasal bridge, Ventriculomegaly, Proptosis, Seizure, Hydrocephalus, Macrocephaly	ORPHA:1860
Arachnoiditis	Hydrocephalus	ORPHA:137817
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Wide nasal bridge, Hydranencephaly, Dilated third ventricle, Small for gestational age, Lateral v...	OMIM:620371
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Coach Syndrome 3	Molar tooth sign on MRI, Ataxia	OMIM:619113
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Anteverted nares, Microcephaly, Hypoplasia of teeth, Short nose	OMIM:234050
Joubert Syndrome With Hepatic Defect	Ataxia, Occipital encephalocele, Seizure, Anteverted nares, Prominent nasal bridge, Gait disturba...	ORPHA:1454
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Failure to thrive in infancy, Anteverte...	ORPHA:1340
Mend Syndrome	Failure to thrive, Seizure, Micrognathia, Prominent nasal bridge, Aggressive behavior, Hyperactiv...	ORPHA:401973
Shprintzen-Goldberg Craniosynostosis Syndrome	Hypoplasia of the maxilla, Dental malocclusion, Proptosis, Anteverted nares, Micrognathia, Microc...	OMIM:182212
Myopathy, Centronuclear, X-Linked	Dental malocclusion, Hydrocephalus, Dandy-Walker malformation, Macrocephaly	OMIM:310400
Proteus-Like Syndrome	Anteverted nares, Hydrocephalus, Macrocephaly, Communicating hydrocephalus, Mandibular prognathia	ORPHA:2969
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Depressed nasal bridge, Choanal atresia, Proptosis, Hypoplasia of the zygomatic bone, Anteverted ...	ORPHA:1555
Congenital Sialidosis Type 2	Ataxia, Seizure, Myoclonus, Dysmetria, Hydrocephalus, Macrocephaly	ORPHA:93400
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Ruvalcaba Syndrome	Microcephaly, Convex nasal ridge, Seizure, Short nose	ORPHA:3121
Andersen-Tawil Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Seizure, Bulbous nose, Persistence of primary teeth...	ORPHA:37553
Bresek Syndrome	Microcephaly, Hydrocephalus, Convex nasal ridge	ORPHA:85284
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Micrognathia, Short nose	ORPHA:1129
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Retrognathia, Seizure, Microcephaly, Short nose	OMIM:618005
Jacobsen Syndrome	Depressed nasal bridge, Failure to thrive, Anteverted nares, Micrognathia, Microcephaly, Hydrocep...	OMIM:147791
15Q Overgrowth Syndrome	Wide nasal bridge, Microretrognathia, Retrognathia, Seizure, Micrognathia, Malar flattening, Hype...	ORPHA:314585
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Congenital Myopathy 22A, Classic	Wide nasal bridge, Proptosis, Micrognathia, Deeply set eye, Neonatal death, Normal pressure hydro...	OMIM:620351
Cockayne Syndrome A	Ventriculomegaly, Carious teeth, Dental malocclusion, Failure to thrive, Seizure, Abnormal audito...	OMIM:216400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventricle dilatation, ...	OMIM:613154
White-Sutton Syndrome	Self-injurious behavior, Depressed nasal bridge, Broad nasal tip, Seizure, Febrile seizure (withi...	ORPHA:468678
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Mandibular prognathia, Retrognathia, Lateral ventricle dilatation, Micro...	OMIM:618914
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Typical absence seizure, Retrognathia...	OMIM:617157
Fabry Disease	Abnormal autonomic nervous system physiology	OMIM:301500
Hijazi-Reis Syndrome	Gait disturbance, Motor stereotypy, Seizure	OMIM:301094
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Depressed nasal bridge, Seizure, Obesity, Short attention span, Malar flattening, Aggressive beha...	OMIM:301066
Primrose Syndrome	Self-injurious behavior, Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Depressed...	OMIM:259050
Nicolaides-Baraitser Syndrome	Wide nasal base, Failure to thrive, Seizure, Bulbous nose, Narrow nasal bridge, Anteverted nares,...	OMIM:601358
Osteoglophonic Dysplasia	Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Proptosis, Failure to thrive,...	OMIM:166250
Trisomy 18	Choanal atresia, Microretrognathia, Microcephaly, Cachexia, Cognitive impairment, Spina bifida, H...	ORPHA:3380
Nager Syndrome	Hypoplasia of the maxilla, Micrognathia, Abnormal nasal morphology, Hypoplasia of the zygomatic bone	ORPHA:245
Joubert Syndrome 18	Occipital encephalocele, Molar tooth sign on MRI	OMIM:614815
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:71273
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Choanal atresia, Semilobar holoprosencephaly, Retrognathia, Seizure, Narrow nose, Anteverted nare...	OMIM:301044
Beare-Stevenson Cutis Gyrata Syndrome	Depressed nasal bridge, Choanal atresia, Ventriculomegaly, Natal tooth, Proptosis, Anteverted nar...	OMIM:123790
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Impaired pain sensation, Gait ataxia, Overfriendliness, Microcephaly, Motor stereotypy	OMIM:616579
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Depressed nasal bridge, Micrognathia, Prominent nasal bridge, Hydrocephalus, Hypertelorism	OMIM:619951
Antley-Bixler Syndrome	Choanal atresia, Proptosis, Hypoplasia of the zygomatic bone, Anteverted nares, Hypertelorism, Sh...	ORPHA:83
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Microcephaly, EEG abnormality, Dandy-Walker malformatio...	ORPHA:2719
Poikiloderma With Neutropenia	Depressed nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Micrognathia, Rec...	OMIM:604173
Frontorhiny	Cranium bifidum occultum, Hypoplasia of the maxilla, Encephalocele, Basal encephalocele, Hypertel...	ORPHA:391474
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Bulbous nose, Micrognathia, Hypotelorism, Deeply set eye, Microcephaly, S...	OMIM:614114
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Decreased body weight, Deeply set eye, Hypertelorism, Aqueductal stenosis, Short no...	OMIM:616462
Tetrasomy 15Q26	Microretrognathia, Hydrocephalus, Dandy-Walker malformation, Hypertelorism	OMIM:614846
Gapo Syndrome	Depressed nasal bridge, Ventriculomegaly, Eruption failure, Seizure, Anteverted nares, Micrognath...	OMIM:230740
Mucopolysaccharidosis Type 2	Wide nasal bridge, Abnormal temper tantrums, Mental deterioration, Recurrent upper respiratory tr...	ORPHA:580
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Nasal congestion, Thick nasal ...	ORPHA:79345
Cockayne Syndrome B	Carious teeth, Dental malocclusion, Failure to thrive, Seizure, Abnormal auditory evoked potentia...	OMIM:133540
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Proptosis, Micrognathia, Encephalocele, Microcephaly, Hydrocephalus	ORPHA:1865
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613266
Joubert Syndrome 39	Overweight, Occipital encephalocele, Molar tooth sign on MRI	OMIM:619562
Weiss-Kruszka Syndrome	Colpocephaly, Ventriculomegaly, Anteverted nares, Short nose	OMIM:618619
Floating-Harbor Syndrome	Abnormal temper tantrums, Broad-based gait, Carious teeth, Hypoplasia of the maxilla, Broad nasal...	ORPHA:2044
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Secondary microcephaly, Emotional lability, Social and occupational d...	ORPHA:353281
Opitz-Kaveggia Syndrome	Choanal atresia, Seizure, Postnatal macrocephaly, Prominent nose, Micrognathia, Attention deficit...	OMIM:305450
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus	OMIM:614195
Achondroplasia	Depressed nasal bridge, Anteverted nares, Hydrocephalus, Macrocephaly, Short nasal bridge	ORPHA:15
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Confusion, Microcephaly, Cachexia, Hydrocephalus, Ataxia	ORPHA:220295
Parkinsonian-Pyramidal Syndrome	Abnormal autonomic nervous system physiology	ORPHA:171695
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Ventriculomegaly, Carious teeth, Failure to thrive, Anteverted nares, Mic...	OMIM:244450
C Syndrome	Wide nasal bridge, Failure to thrive, Seizure, Anteverted nares, Micrognathia, Microcephaly, Shor...	OMIM:211750
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a...	ORPHA:3214
Griscelli Syndrome	Encephalocele, Hydrocephalus, Seizure, Ataxia	ORPHA:381
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Seizure, Bulbous nose, Micrognathia, H...	OMIM:309590
Distal Duplication 5Q	Carious teeth, Prominent nasal bridge, Micrognathia, Microcephaly, Hypertelorism, Short nose	ORPHA:96097
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Micrognathia, Failure to thrive	OMIM:301108
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Delayed eruption of teeth, Seizure, Epileptic spasm, Anteverted nares, Infanti...	OMIM:247200
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot	OMIM:618541
Cowden Syndrome 5	Progressive macrocephaly, Hypoplasia of the maxilla, Micrognathia, Seizure	OMIM:615108
Carey-Fineman-Ziter Syndrome	Ventriculomegaly, Anteverted nares, Micrognathia, Microcephaly, Short nose	ORPHA:1358
Au-Kline Syndrome	Bifid nasal tip, Ventriculomegaly, Dental malocclusion, Retrognathia, Failure to thrive, Underdev...	OMIM:616580
Diabetic Embryopathy	Microcephaly, Micrognathia, Hydrocephalus, Spinal dysraphism	ORPHA:1926
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis	ORPHA:3035
Cohen Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Seizure, Failure to thrive in infanc...	ORPHA:193
Meningioma	Transient global amnesia, Memory impairment, Proptosis, Seizure, Hemifacial spasm, Difficulty wal...	ORPHA:2495
Myhre Syndrome	Ataxia, Hypoplasia of the maxilla, Seizure, Obesity, Prominent nasal bridge, Malar flattening, De...	OMIM:139210
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Depressed nasal bridge, Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Later...	ORPHA:397715
Hurler Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Hydrocephalus, Macr...	OMIM:607014
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Failure to thrive, Narrow nose, Deeply set eye, Long nose, Narrow maxilla, Short nose	OMIM:617602
Recon Progeroid Syndrome	Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Prominence of the premaxilla...	OMIM:620370
Ramos-Arroyo Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:1051
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Secondary mic...	OMIM:608156
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spina bifida occulta, Anteverted nares, Anterior open-bite malocclusion, Short nose	OMIM:617877
Alpha-Mannosidosis, Infantile Form	Depressed nasal bridge, Depression, Proptosis, Confusion, Abnormality of the sphenoid sinus, Macr...	ORPHA:309282
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Failure to thrive, Myelomeningocele, Micrognathia, Hypoplastic frontal si...	ORPHA:90652
Saethre-Chotzen Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Seizure, Prominent nasal bridge, Hypotelorism,...	ORPHA:794
Cenani-Lenz Syndrome	Proptosis, Abnormal dental enamel morphology, Malar flattening, Convex nasal ridge, Hypertelorism...	ORPHA:3258
Fetal Hydantoin Syndrome	Microcephaly, Depressed nasal ridge, Short nose, Hypertelorism	ORPHA:1912
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventriculomegaly, Failure to thrive, Seizure, Prominent nasal bridge, Deeply set eye, Microcephal...	ORPHA:464311
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose, Hypertelorism	OMIM:615539
Gracile Bone Dysplasia	Hydrocephalus, Failure to thrive	OMIM:602361
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Failure to thrive, Anteverted nares, Cognitive impairment, Sinusitis	ORPHA:238468
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Depressed nasal bridge, Anteverted nares, Small for gestational age, Short nose, Wide nose	OMIM:613320
Osteopetrosis, Autosomal Recessive 5	Undetectable visual evoked potentials, Ventriculomegaly, Proptosis, Seizure, Generalized-onset se...	OMIM:259720
Hypotonia, Ataxia, And Delayed Development Syndrome	Pain insensitivity, Broad-based gait, Broad nasal tip, Seizure, Anteverted nares, Prominent nasal...	OMIM:617330
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypoplasia of the maxilla, Proptosis, Delayed eruption of teeth, Bulbous nose, Narrow nasal bridg...	OMIM:259600
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Prominent nasal bridge, Hype...	ORPHA:50814
Carpenter Syndrome 1	Depressed nasal bridge, Hypoplasia of the maxilla, Obesity, Micrognathia, Persistence of primary ...	OMIM:201000
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Renal And Mullerian Duct Hypoplasia	Micrognathia, Short nose, Hypertelorism	OMIM:266810
Monosomy 9Q22.3	Ventriculomegaly, Delayed eruption of teeth, Seizure, Large for gestational age, Hyperactivity, H...	ORPHA:77301
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Mental deterioration, Memory impairment, Failure to thrive, Seizure, Dementia, Infantile spasms, ...	ORPHA:79282
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Motor stereotypy, Seizure, Macrocephaly	ORPHA:529965
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:209880
Joubert Syndrome 22	Molar tooth sign on MRI	OMIM:615665
Molybdenum Cofactor Deficiency, Type A	Ventriculomegaly, Seizure, Microcephaly, Myoclonic spasms, Macrocephaly, Hypertelorism, Short nose	OMIM:252150
Baller-Gerold Syndrome	Proptosis, Failure to thrive in infancy, Narrow nasal bridge, Prominent nasal bridge, Micrognathi...	ORPHA:1225
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Increased CSF protein concentration, Abnormal medulla oblongata mor...	ORPHA:68
Cowden Syndrome 6	Progressive macrocephaly, Hypoplasia of the maxilla, Micrognathia, Seizure	OMIM:615109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Ventriculomegaly, Retrognathia, Hypoplasia of the brainstem, Encephalocele, Deeply set eye, Hydro...	OMIM:614643
Niemann-Pick Disease, Type C2	Seizure, Dysphagia, Ataxia, Dementia, Motor stereotypy	OMIM:607625
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Seizure, Retrognathia, Micrognathia, Progressive microcephaly, Primary microce...	OMIM:608779
Geroderma Osteodysplasticum	Hypoplasia of the maxilla, Malar flattening, Deeply set eye, Microcephaly, Hypertelorism, Mandibu...	OMIM:231070
Johanson-Blizzard Syndrome	Failure to thrive, Underdeveloped nasal alae, Delayed eruption of teeth, Microcephaly, Abnormal n...	ORPHA:2315
Stuve-Wiedemann Syndrome 1	Abnormal autonomic nervous system physiology	OMIM:601559
Cerebrofaciothoracic Dysplasia	Ventriculomegaly, Macrocephaly, Hypertelorism, Short nose, Wide nose	ORPHA:1394
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Pear-shaped nose, Overfriendliness, Focal hemiclonic seizure, Abnormal social beha...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Pear-shaped nose, Overfriendliness, Focal hemiclonic seizure, Abnormal social beha...	ORPHA:363958
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Depressed nasal bridge, Choanal atresia, Proptosis, Malar flattening, Choanal stenosis, Hydroceph...	OMIM:207410
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal autonomic nervous system physiology	ORPHA:453499
Elsahy-Waters Syndrome	Wide nasal bridge, Bifid nasal tip, Hypoplasia of the maxilla, Dental malocclusion, Delayed erupt...	OMIM:211380
Temtamy Preaxial Brachydactyly Syndrome	Hypoplasia of the maxilla, Micrognathia, Short nose, Talon cusp	ORPHA:363417
Mietens Syndrome	Wide nasal bridge, Microcephaly, Short nose, Wide nose	ORPHA:2557
Basal Cell Nevus Syndrome 2	Hydrocephalus, Macrocephaly	OMIM:620343
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal brainstem morphology, Hydrocephalus, Seizure, Ataxia	ORPHA:2720
Mucopolysaccharidosis Type 1	Depressed nasal bridge, Thick nasal alae, Paresthesia, Sinusitis, Abnormal nasal morphology, Hydr...	ORPHA:579
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Micrognathia, Encephalocele, Hypotelorism, Microcephaly, Absent nar...	ORPHA:2166
Zttk Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Hypoplasia of the maxilla, Failure t...	OMIM:617140
Warburg Micro Syndrome 2	Undetectable visual evoked potentials, Secondary microcephaly, Prominent nasal bridge, Deeply set...	OMIM:614225
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Hypertelorism, Short nose	OMIM:217980
Tick-Borne Encephalitis	Facial palsy, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morphology, Abno...	ORPHA:297
Laurin-Sandrow Syndrome	Depressed nasal ridge, Abnormality of the nose, Underdeveloped nasal alae, Prominent nose, Short ...	ORPHA:2378
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Micrognathia, Choroid plexus cyst, Hydrocephalus, Hypertelorism	OMIM:617866
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Seizure, Dementia, Confusion, Microcephaly, Lethargy, Hydrocephalus, Delirium,...	OMIM:277400
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Meier-Gorlin Syndrome 4	Microcephaly, Hypoplasia of the maxilla, Micrognathia, Failure to thrive	OMIM:613804
Distal Triplication 15Q	Retrognathia, Large for gestational age, Micrognathia, Hydrocephalus, Hypertelorism, Dandy-Walker...	ORPHA:314588
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Seizure, Hydrocephalus, Hypertelorism, Dandy-Walker malformation	ORPHA:1647
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Wide nasal bridge, Ventriculomegaly, Microretrognathia, Proptosis, Retro...	ORPHA:468631
Pilarowski-Bjornsson Syndrome	Motor stereotypy, Seizure, Macrocephaly	OMIM:617682
Goldberg-Shprintzen Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the brainstem, Bulbous nose, Prominen...	OMIM:609460
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Depressed nasal bridge, Malar flattening, Microcephaly, Hypertelorism, Short nose	OMIM:616723
Endocrine-Cerebroosteodysplasia	Wide nasal bridge, Ventriculomegaly, Natal tooth, Depressed nasal tip, Micrognathia, Hypotelorism...	OMIM:612651
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Depressed nasal bridge, Seizure, Hydrocephalus, Macrocephaly, Focal impaired awareness seizure	OMIM:616482
Microphthalmia With Limb Anomalies	Flared nostrils, Depressed nasal bridge, Failure to thrive, Retrognathia, Short nose	OMIM:206920
Diaphanospondylodysostosis	Depressed nasal bridge, Depressed nasal ridge, Micrognathia, Hypertelorism, Short nose	OMIM:608022
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Chorea, Self-mutilation, Prominent nasal tip, Repetitive compulsive behavior, Self-biting, Ataxia...	ORPHA:522077
Marshall-Smith Syndrome	Choanal atresia, Ventriculomegaly, Recurrent upper respiratory tract infections, Depressed nasal ...	OMIM:602535
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hypoplastic facial bones, Microretrognathia, Natal tooth, Prominent nose, Encephalocele, Molar to...	OMIM:616300
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nasal bone, Hypertelorism	ORPHA:2095
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Hydrocephalus	OMIM:219730
Osteopathia Striata With Cranial Sclerosis	Wide nasal bridge, Natal tooth, Failure to thrive, Seizure, Craniofacial osteosclerosis, Dental m...	OMIM:300373
White-Kernohan Syndrome	Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Obesity, Anteverted nares, Hypot...	OMIM:619426
Difference Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Short nose, Deeply set eye	ORPHA:2983
Ogden Syndrome	Flared nostrils, Micrognathia, Deeply set eye, Hypertelorism, Dysphagia, Motor stereotypy, Short ...	OMIM:300855
Van Maldergem Syndrome 1	Wide nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Micrognathia, Malar flattening...	OMIM:601390
Rapp-Hodgkin Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, Underdeveloped nasal alae, Narr...	OMIM:129400
Coffin-Siris Syndrome	Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa...	ORPHA:1465
Walker-Warburg Syndrome	Ventriculomegaly, Seizure, Microcephaly, Hydrocephalus, Macrocephaly, Dandy-Walker malformation	ORPHA:899
Otopalatodigital Syndrome, Type I	Wide nasal bridge, Malar flattening, Multiple impacted teeth, Absent frontal sinuses, Hypertelori...	OMIM:311300
Musculocontractural Ehlers-Danlos Syndrome	Ventriculomegaly, Microretrognathia, Dysesthesia, Hypertelorism, Prominent nasolabial fold, Short...	ORPHA:2953
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Anteverted nares, Short attention span, Diminished ability to conce...	OMIM:612863
Congenital Syphilis	Seizure, Hyperplasia of the maxilla, Hydrocephalus, Mulberry molar, Concave nasal ridge, Notched ...	ORPHA:499009
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Carious teeth, Natal tooth, Secondary microcephaly, Micrognathia, Emotional lability, Social and ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Carious teeth, Natal tooth, Secondary microcephaly, Micrognathia, Emotional lability, Social and ...	ORPHA:353277
Schinzel-Giedion Midface Retraction Syndrome	Depressed nasal bridge, Ventriculomegaly, Failure to thrive, Seizure, Anteverted nares, Malar fla...	OMIM:269150
Tuberous Sclerosis Complex	Self-injurious behavior, Depression, Seizure, Epileptic spasm, Infantile spasms, Aggressive behav...	ORPHA:805
Genitourinary And/Or Brain Malformation Syndrome	Secondary microcephaly, Micrognathia, Aplasia of the nasal bone, Attention deficit hyperactivity ...	OMIM:618820
Alg9-Cdg	Depressed nasal bridge, Microretrognathia, Proptosis, Seizure, Underdeveloped nasal alae, Microgn...	ORPHA:79328
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N...	ORPHA:3322
Sturge-Weber Syndrome	Seizure, Attention deficit hyperactivity disorder, Hydrocephalus, Macrocephaly, Dysphagia	ORPHA:3205
Bcard Syndrome	Ventriculomegaly, Anteverted nares, Malar flattening, Shallow orbits, Short nose	OMIM:612394
Van Maldergem Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Microg...	OMIM:615546
Treacher-Collins Syndrome	Wide nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Failure to thrive, Hypoplasia of t...	ORPHA:861
Coffin-Lowry Syndrome	Ventriculomegaly, Thick nasal septum, Broad columella, Seizure, Dental malocclusion, Thick nasal ...	OMIM:303600
Schneckenbecken Dysplasia	Macrocephaly, Malar flattening, Short nose, Stillbirth	OMIM:269250
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
Meier-Gorlin Syndrome 6	Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Failure to thrive, Underdevelop...	OMIM:616835
Dend Syndrome	Anteverted nares, Seizure, Short nose	ORPHA:79134
Fanconi Anemia, Complementation Group L	Wide nasal bridge, Depressed nasal tip, Micrognathia, Attention deficit hyperactivity disorder, H...	OMIM:614083
Dubowitz Syndrome	Depressed nasal bridge, Delayed eruption of teeth, Seizure, Micrognathia, Microcephaly, Attention...	ORPHA:235
Achondroplasia	Depressed nasal bridge, Brain stem compression, Malar flattening, Choanal stenosis, Hydrocephalus...	OMIM:100800
Ciliary Dyskinesia, Primary, 1	Anosmia, Nasal polyposis, Chronic sinusitis, Chronic rhinitis, Absent frontal sinuses, Communicat...	OMIM:244400
Acute Transverse Myelitis	Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:139417
Gorlin Syndrome	Wide nasal bridge, Carious teeth, Abnormality of the sense of smell, Hypertelorism, Hydrocephalus...	ORPHA:377
Alternating Hemiplegia Of Childhood	Abnormal autonomic nervous system physiology	ORPHA:2131
Hereditary Cryohydrocytosis With Reduced Stomatin	Ataxia, Seizure, Hypoglycorrhachia, Microcephaly, Macrocephaly, Communicating hydrocephalus	ORPHA:168577
Apert Syndrome	Depressed nasal bridge, Choanal atresia, Ventriculomegaly, Dental malocclusion, Delayed eruption ...	OMIM:101200
Robinow Syndrome, Autosomal Dominant 3	Wide nasal bridge, Depressed nasal bridge, Dental malocclusion, Proptosis, Anteverted nares, Micr...	OMIM:616894
Lateral Meningocele Syndrome	Micrognathia, Malar flattening, Hydrocephalus, Hypertelorism, Meningocele, Short nasal bridge	OMIM:130720
Marshall Syndrome	Depressed nasal bridge, Macrodontia of permanent maxillary central incisor, Anteverted nares, Mic...	OMIM:154780
Dyrk1A-Related Intellectual Disability Syndrome	Ventriculomegaly, Failure to thrive, Seizure, Febrile seizure (within the age range of 3 months t...	ORPHA:464306
Deeah Syndrome	Extra-axial cerebrospinal fluid accumulation, Impaired pain sensation, Seizure, Retrognathia, Dec...	OMIM:619004
Cowden Syndrome 1	Progressive macrocephaly, Hypoplasia of the maxilla, Micrognathia, Seizure	OMIM:158350
Trisomy 8P	Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Seizure, Ante...	ORPHA:264450
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal autonomic nervous system physiology	ORPHA:93256
Primary Ciliary Dyskinesia	Ventriculomegaly, Nasal polyposis, Nasal congestion, Chronic sinusitis, Chronic rhinitis, Hydroce...	ORPHA:244
Witteveen-Kolk Syndrome	Flared nostrils, Hyperplasia of the maxilla, Deeply set eye, Hypertelorism, Short nose, Wide nose...	OMIM:613406
Congenital Myopathy 22B, Severe Fetal	Wide nasal bridge, Proptosis, Retrognathia, Micrognathia, Deeply set eye, Short nose, Waddling gait	OMIM:620369
Opsismodysplasia	Depressed nasal bridge, Short nose, Macrocephaly	ORPHA:2746
Jacobsen Syndrome	Wide nasal bridge, Ventriculomegaly, Broad columella, Seizure, Anteverted nares, Attention defici...	ORPHA:2308
Axial Mesodermal Dysplasia Spectrum	Micrognathia, Hydrocephalus, Hypertelorism	ORPHA:1834
Neurofibromatosis, Type I	Seizure, Hypsarrhythmia, Spina bifida, Hydrocephalus, Macrocephaly, Aqueductal stenosis, Hypertel...	OMIM:162200
Mucopolysaccharidosis, Type Ii	Hydrocephalus, Delayed eruption of teeth, Seizure, Macrocephaly	OMIM:309900
Orofaciodigital Syndrome I	Wide nasal bridge, Carious teeth, Microretrognathia, Seizure, Underdeveloped nasal alae, Myelomen...	OMIM:311200
Cole-Carpenter Syndrome	Proptosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Communicat...	ORPHA:2050
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Micrognathia, Encephalocele, Malar flattening, Shallow orbits, Hydrocephalus	OMIM:224400
Full Nf2-Related Schwannomatosis	Hyperesthesia, Memory impairment, Myelopathy, Somatic sensory dysfunction, Seizure, Hydrocephalus...	ORPHA:637
Mandibuloacral Dysplasia With Type B Lipodystrophy	Proptosis, Micrognathia, Narrow nasal ridge, Hypoplasia of teeth, Short nose	OMIM:608612
Fibrochondrogenesis 1	Depressed nasal bridge, Proptosis, Anteverted nares, Malar flattening, Stillbirth, Short nose	OMIM:228520
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Wh...	OMIM:611584
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Hypotelorism, Convex nasal ridge, Ataxia, Small for gestational age, Shor...	OMIM:300661
Barber-Say Syndrome	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Underdeveloped nasal a...	OMIM:209885
Aymé-Gripp Syndrome	Depressed nasal bridge, Ventriculomegaly, Seizure, Febrile seizure (within the age range of 3 mon...	ORPHA:1272
Atelosteogenesis, Type I	Depressed nasal bridge, Proptosis, Micrognathia, Malar flattening, Encephalocele, Neonatal death,...	OMIM:108720
Acrofacial Dysostosis 1, Nager Type	Retrognathia, Temporomandibular joint ankylosis, Micrognathia, Prominent nasal bridge, Malar flat...	OMIM:154400
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Bannayan-Riley-Ruvalcaba Syndrome	Seizure, Anteverted nares, Micrognathia, Cachexia, Macrocephaly, Short nose, Wide nose	ORPHA:109
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Depressed nasal bridge, Proptosis, Difficulty walking, Malar flattening, Microcephaly, Short nose...	ORPHA:457395
Squalene Synthase Deficiency	Abnormality of hair pigmentation	OMIM:618156
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Depressed nasal bridge, Bulbous nose, Anteverted nares, Malar flattening, Hypertelorism, Relative...	OMIM:271510
Neuroleptic Malignant Syndrome	Abnormal autonomic nervous system physiology	ORPHA:94093
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Ventriculomegaly, Microretrognathia, Seizure, Anteverted nares, Macrocephaly at birth, Hypertelor...	ORPHA:280633
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Ventriculomegaly, Hypoplasia of the brainstem, Occipital meningocele, Hydrocephalus, Molar tooth ...	OMIM:616546
Chromosome 17P13.1 Deletion Syndrome	Depressed nasal bridge, Bulbous nose, Anteverted nares, Prominent nasal bridge, Microcephaly, Hyd...	OMIM:613776
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Wolfram Syndrome	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:3463
Pelvis-Shoulder Dysplasia	Hydranencephaly, Micrognathia, Hydrocephalus, Spina bifida, Waddling gait	ORPHA:2839
Distal Deletion 9P	Wide nasal bridge, Proptosis, Short nose, Hypertelorism	ORPHA:1642
Meier-Gorlin Syndrome 5	Microcephaly, Hypoplasia of the maxilla, Micrognathia, Failure to thrive	OMIM:613805
Adams-Oliver Syndrome	Failure to thrive, Seizure, Encephalocele, EEG abnormality, Hydrocephalus	ORPHA:974
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
22Q11.2 Deletion Syndrome	Wide nasal bridge, Choanal atresia, Carious teeth, Depression, Failure to thrive, Seizure, Abnorm...	ORPHA:567
Osteootohepatoenteric Syndrome	Weight loss, Hydrocephalus, Failure to thrive	OMIM:619377
Branchioskeletogenital Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Carious teeth, Proptosis, Sei...	ORPHA:1299
Chromosome 16P13.3 Duplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Deeply s...	OMIM:613458
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Seizure, Hypoplasia of the brainstem, Micrognathia, Mi...	OMIM:236670
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Depressed nasal bridge, Dentinogenesis imperfecta, Carious teeth, Proptosis, Seizure, Anteverted ...	ORPHA:536467
Schinzel-Giedion Syndrome	Ventriculomegaly, Broad nasal tip, Proptosis, Retrognathia, Seizure, Delayed eruption of teeth, F...	ORPHA:798
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Holoprosencephaly, Hydrocephalus	ORPHA:77298
Robinow Syndrome	Flared nostrils, Depressed nasal bridge, Broad nasal tip, Dental malocclusion, Proptosis, Antever...	ORPHA:97360
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the ma...	ORPHA:306542
Lathosterolosis	Anteverted nares, Micrognathia, Microcephaly, Prominent nasal tip, Short nose	OMIM:607330
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Thanatophoric Dysplasia, Type I	Macrocephaly, Hydrocephalus, Neonatal death	OMIM:187600
Hajdu-Cheney Syndrome	Wide nasal bridge, Failure to thrive, Abnormal mandible morphology, Hypoplasia of the zygomatic b...	ORPHA:955
Meier-Gorlin Syndrome 3	Hypoplasia of the maxilla, Microretrognathia, Failure to thrive, Micrognathia, Prominent nasal br...	OMIM:613803
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Motor stereotypy, Myoclonic seizure, Dysphagia, Infantile spasms	ORPHA:572013
Czeizel-Losonci Syndrome	Myelomeningocele, Micrognathia, Hydrocephalus, Spina bifida, Spina bifida occulta	ORPHA:2437
Isotretinoin-Like Syndrome	Microcephaly, Anteverted nares, Micrognathia, Hydrocephalus	ORPHA:2306
Cystinosis	Polydipsia, Gait disturbance, Motor stereotypy, Failure to thrive	ORPHA:213
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Seizure, Malar flattening, Shallow orbits, Hypertelorism, Short nose	OMIM:601353
Greenberg Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Stillbirth, Retrognathi...	OMIM:215140
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Ventriculomegaly, Carious teeth, Dental malocclusion, Brain stem compr...	ORPHA:666
Mend Syndrome	Microretrognathia, Failure to thrive, Seizure, Bulbous nose, Micrognathia, Prominent nasal bridge...	OMIM:300960
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Coffin-Siris Syndrome 12	Depressed nasal bridge, Failure to thrive, Seizure, Underdeveloped nasal alae, Bulbous nose, Ante...	OMIM:619325
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Depressed nasal bridge, Recurrent upper respiratory tract infections, Cariou...	OMIM:253200
Vacterl With Hydrocephalus	Retrognathia, Micrognathia, Hydrocephalus, Spina bifida, Aqueductal stenosis	ORPHA:3412
Chops Syndrome	Proptosis, Obesity, Anteverted nares, Microcephaly, Hypertelorism, Short nose	OMIM:616368
Fraser Syndrome 3	Micrognathia, Hydrocephalus, Convex nasal ridge, Wide nose	OMIM:617667
Ctcf-Related Neurodevelopmental Disorder	Abnormal temper tantrums, Macrodontia of permanent maxillary central incisor, Broad nasal tip, Ve...	ORPHA:363611
Cousin Syndrome	Hydranencephaly, Micrognathia, Deeply set eye, Hydrocephalus, Macrocephaly, Hypertelorism	OMIM:260660
Trichothiodystrophy 1, Photosensitive	Microcephaly, Small for gestational age, Short nose, Retrognathia	OMIM:601675
Ring Chromosome 7 Syndrome	Wide nasal bridge, Ventriculomegaly, Narrow naris, Anteverted nares, Prominent nasal bridge, Mala...	ORPHA:1449
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Hypertelorism, Short nose	ORPHA:2282
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal dental pulp morphology, Seizure, Lower limb dysmetria, Abnormality of the sphenoid sinus...	ORPHA:363700
Basal Cell Nevus Syndrome 1	Wide nasal bridge, Hypertelorism, Hydrocephalus, Spina bifida, Macrocephaly, Mandibular prognathia	OMIM:109400
Khan-Khan-Katsanis Syndrome	Ventriculomegaly, Failure to thrive, Micrognathia, Microcephaly, Colpocephaly, Short nose	OMIM:618460
Rothmund-Thomson Syndrome, Type 2	Depressed nasal bridge, Delayed eruption of teeth, Micrognathia, Hypertelorism, Hypoplasia of tee...	OMIM:268400
Fanconi Anemia, Complementation Group R	Microcephaly, Hydrocephalus	OMIM:617244
Frontofacionasal Dysplasia	Cranium bifidum occultum, Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defe...	OMIM:229400
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Micrognathia, Aplasia/Hypoplasia involving the nose	ORPHA:3301
Wiedemann-Rautenstrauch Syndrome	Depressed nasal bridge, Hypoplastic facial bones, Natal tooth, Failure to thrive, Delayed eruptio...	OMIM:264090
Acrocallosal Syndrome	Wide nasal bridge, Microretrognathia, Failure to thrive, Seizure, Persistence of primary teeth, H...	OMIM:200990
Fanconi Anemia, Complementation Group D2	Hypotelorism, Microcephaly, Attention deficit hyperactivity disorder, Hydrocephalus, Hyperteloris...	OMIM:227646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Seizure, Hypoplasia of the brainstem, Micrognathia, Myoclonus, Malar flattening...	OMIM:253280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Hydrocephalus, Macrocephaly	OMIM:616538
Toriello-Carey Syndrome	Ventriculomegaly, Seizure, Micrognathia, Microcephaly, Dandy-Walker malformation, Short nose	ORPHA:3338
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Broad-based gait, Micrognathia, Deeply set eye, Dysphagia, Short nose, Falls, Tip-toe gait, Macro...	OMIM:619503
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Seizure, Epileptic spasm, Anteverted nares...	OMIM:304050
Orofaciodigital Syndrome Vi	Broad nasal tip, Failure to thrive, Micrognathia, Molar tooth sign on MRI, Hypertelorism, Occipit...	OMIM:277170
Opsismodysplasia	Depressed nasal bridge, Macrocephaly, Anteverted nares, Shallow orbits, Hypertelorism, Short nose	OMIM:258480
Hajdu-Cheney Syndrome	Dental malocclusion, Failure to thrive, Anteverted nares, Micrognathia, Malar flattening, Absent ...	OMIM:102500
Van Den Ende-Gupta Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Underdeveloped nasal alae, Narrow nose, Microg...	OMIM:600920
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Depressed nasal bridge, Microretrognathia, Proptosis, Micrognathia, Hydrocephalus, Hypertelorism	OMIM:245600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Seizure, Encephalocele, Microcephaly, Hydrocephalus	OMIM:613150
Monosomy 9P	Depressed nasal bridge, Choanal atresia, Seizure, Anteverted nares, Micrognathia, Malar flattenin...	ORPHA:261112
Stickler Syndrome	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Microretrognathia, Prop...	ORPHA:828
Hurler Syndrome	Wide nasal bridge, Depressed nasal bridge, Depression, Anteverted nares, Hydrocephalus, Rhinitis	ORPHA:93473
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Wide nasal bridge, Carious teeth, Broad nasal tip, Seizure, Bulbous nose, Anteverted nares, Micro...	OMIM:619522
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Wide nasal bridge, Depressed nasal bridge, Hydrocephalus, Hypertelorism	OMIM:104350
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Depressed nasal bridge, Failure to thrive, Generalized non-motor (absenc...	OMIM:612474
Weill-Marchesani Syndrome 1	Depressed nasal bridge, Hypoplasia of the maxilla, Shallow orbits, Broad skull	OMIM:277600
Neonatal Lupus Erythematosus	Hydrocephalus, Macrocephaly	ORPHA:398124
Short-Rib Thoracic Dysplasia 12	Natal tooth, Neonatal death, Hypertelorism, Hydrocephalus, Macrocephaly, Holoprosencephaly, Anenc...	OMIM:269860
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Ventriculomegaly, Dental malocclusion, Hypopl...	OMIM:616202
Cutis Laxa, Autosomal Recessive, Type Iic	Hypoplasia of the maxilla, Broad nasal tip, Broad columella, Narrow naris, Anteverted nares, Mala...	OMIM:617402
Toriello-Lacassie-Droste Syndrome	Proptosis, Failure to thrive, Anteverted nares, Macrocephaly, Short nose	ORPHA:3339
Fraser Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Dental malocclusion, Seizure, Underdeveloped nasal ala...	OMIM:219000
Pseudotrisomy 13 Syndrome	Encephalocele, Hypotelorism, Microcephaly, Hydrocephalus, Cyclopia, Holoprosencephaly	OMIM:264480
Orofaciodigital Syndrome Type 4	Choanal atresia, Depressed nasal ridge, Aplasia/Hypoplasia of the mandible, Proptosis, Failure to...	ORPHA:2753
Norrie Disease	Self-injurious behavior, Failure to thrive, Seizure, Narrow nasal bridge, Malar flattening, Hypot...	ORPHA:649
Campomelic Dysplasia	Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Cari...	OMIM:114290
Ayme-Gripp Syndrome	Wide nasal bridge, Depressed nasal bridge, Craniofacial asymmetry, Seizure, Malar flattening, Hyp...	OMIM:601088
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Failure to thrive, Delayed eruption of primary teeth	OMIM:620099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Holoprosencephaly, Hydrocephalus, Hypoplasia of the brainstem	OMIM:253800
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	ORPHA:488618
Down Syndrome	Depressed nasal ridge, Depressed nasal bridge, Impaired pain sensation, Seizure, Obesity, Gait di...	ORPHA:870
Mycophenolate Mofetil Embryopathy	Bifid nose, Micrognathia, Hydrocephalus, Hypertelorism	ORPHA:268249
Fontaine Progeroid Syndrome	Depressed nasal bridge, Proptosis, Failure to thrive, Retrognathia, Micrognathia, Neonatal death,...	OMIM:612289
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Depressed nasal bridge, Recurrent upper respiratory tract infection...	ORPHA:293987
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Obesity, Abnormal fear-induced behavior, Abdominal obesity	OMIM:219090
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Failure to thriv...	ORPHA:1106
Chilton-Okur-Chung Neurodevelopmental Syndrome	Self-injurious behavior, Epistaxis, Depressed nasal bridge, Broad nasal tip, Macrocephaly, Anteve...	OMIM:619841
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Increased head circumfer...	ORPHA:268810
Wolf-Hirschhorn Syndrome	Wide nasal bridge, Craniofacial asymmetry, Ventriculomegaly, Proptosis, Failure to thrive, Seizur...	OMIM:194190
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Hypoplasia of the maxilla, Underdeveloped nasal alae, Taurodontia, Rhinit...	OMIM:305100
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Anteverted nares, Hair-pulling, Microcephaly,...	OMIM:620568
Marden-Walker Syndrome	Retrognathia, Failure to thrive, Micrognathia, Microcephaly, Attention deficit hyperactivity diso...	ORPHA:2461
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Choanal atresia, Hypoplasia of the maxilla, Broad nasal tip, Carious teeth, Semilobar holoprosenc...	OMIM:129900
Pallister-Hall Syndrome	Depressed nasal bridge, Choanal atresia, Natal tooth, Seizure, Anteverted nares, Neonatal death, ...	OMIM:146510
Autosomal Dominant Robinow Syndrome	Wide nasal bridge, Depressed nasal bridge, Proptosis, Retrognathia, Anteverted nares, Micrognathi...	ORPHA:3107
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Proptosis, Convex nasal ridge, Short nose	ORPHA:90154
Craniosynostosis And Dental Anomalies	Depressed nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth...	OMIM:614188
Neurofibromatosis Type 1	Memory impairment, Proptosis, Seizure, Macrocephaly, Paresthesia, Attention deficit hyperactivity...	ORPHA:636
Mirage Syndrome	Hydrocephalus, Decreased body weight	OMIM:617053
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Hydrocephalus, Seizure, Hypertelorism	OMIM:618162
Autosomal Recessive Robinow Syndrome	Wide nasal bridge, Depressed nasal bridge, Proptosis, Anteverted nares, Micrognathia, Macrocephal...	ORPHA:1507
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Seizure, Anteverted nares, Hydrocephalus, Hyperactivity, Hypertelorism	ORPHA:457284
Microphthalmia With Linear Skin Defects Syndrome	Wide nasal bridge, Failure to thrive, Seizure, Retrognathia, Abnormal dental enamel morphology, M...	ORPHA:2556
Kabuki Syndrome	Ventriculomegaly, Failure to thrive, Seizure, Obesity, Short columella, Microcephaly, Hydrocephal...	ORPHA:2322
Meckel Syndrome, Type 1	Ventriculomegaly, Natal tooth, Occipital encephalocele, Enlarged naris, Dilated fourth ventricle,...	OMIM:249000
Blomstrand Lethal Chondrodysplasia	Depressed nasal bridge, Natal tooth, Proptosis, Anteverted nares, Micrognathia, Malar flattening,...	ORPHA:50945
Chromosome 1P36 Deletion Syndrome, Distal	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Lateral ventricle dilatation, S...	OMIM:607872
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Progressive ventriculomegaly, Hypopl...	ORPHA:500150
Smith-Lemli-Opitz Syndrome	Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Failure to thrive, Seizure, Antever...	OMIM:270400
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Iniencephaly	Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holoprosencephal...	ORPHA:63259
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Hydrocephalus	OMIM:300514
Hyperparathyroidism, Transient Neonatal	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Anteverted nares, Communicating hydr...	OMIM:618188
Degcags Syndrome	Ventriculomegaly, Proptosis, Retrognathia, Oral-pharyngeal dysphagia, Failure to thrive, Prominen...	OMIM:619488
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Mandibular prognathia, Depression, Carious teeth, Delayed eruption of te...	ORPHA:534
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Seizure, Bulbous nose, Loss of ambulation, Microcephaly, Hypertelorism, Macrocephaly, Unsteady ga...	OMIM:616682
Cornelia De Lange Syndrome	Choanal atresia, Depressed nasal bridge, Ventriculomegaly, Delayed eruption of teeth, Seizure, Fa...	ORPHA:199
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel...	OMIM:214500
Arterial Tortuosity Syndrome	Macrocephaly, Malar flattening, Hypertelorism, Abnormal zygomatic bone morphology, Short nose	ORPHA:3342
Meckel Syndrome	Depressed nasal ridge, Micrognathia, Encephalocele, Microcephaly, Hydrocephalus, Hypertelorism, A...	ORPHA:564
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Anteverted nares, Prominent nasal bridge, Trismus, Hypertelorism, Short nose	OMIM:227330
Distal Deletion 19P	Hypoplasia of the maxilla, Seizure	ORPHA:96129
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Wide nasal bridge, Hypoplasia of the maxilla, Bilateral choanal atresia	OMIM:106260
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Short nose	OMIM:277450
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Choanal atresia, Proptosis, Underdeveloped nasal alae, Microcephaly, Hydrocephalus, Overhanging n...	ORPHA:163979
Lenz-Majewski Hyperostotic Dwarfism	Choanal atresia, Facial hyperostosis, Abnormal dental enamel morphology, Hypertelorism, Hydroceph...	ORPHA:2658
Tetrasomy 9P	Inappropriate behavior, Seizure, Abnormal dental enamel morphology, Bulbous nose, Micrognathia, D...	ORPHA:3310
Neurooculorenal Syndrome	Hydrocephalus, Aqueductal stenosis, Ventriculomegaly, Hypoplasia of the pons	OMIM:620305
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Spinal dysraphism, Retrogna...	ORPHA:96334
Osteopetrosis, Autosomal Recessive 7	Proptosis, Lateral ventricle dilatation, Hydrocephalus, Hypocalcemic seizures, Increased head cir...	OMIM:612301
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Deeply set eye, Microcephaly, Hydrocephalus, Convex nasal ridge, Abdominal obesity, Short nose	OMIM:619321
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Knobloch Syndrome	Depressed nasal bridge, Occipital encephalocele, Hydrocephalus, Seizure	ORPHA:1571
Arboleda-Tham Syndrome	Bifid nasal tip, Mandibular prognathia, Microretrognathia, Broad nasal tip, Proptosis, Seizure, P...	OMIM:616268
Robinow Syndrome, Autosomal Recessive 1	Wide nasal bridge, Depressed nasal bridge, Proptosis, Retrognathia, Anteverted nares, Micrognathi...	OMIM:268310
Charge Syndrome	Choanal atresia, Anosmia, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Delayed erupt...	ORPHA:138
Fetal Akinesia Deformation Sequence 1	Proptosis, Depressed nasal tip, Micrognathia, Hydrocephalus, Stillbirth, Hypertelorism, Small for...	OMIM:208150
Coccidioidomycosis	Increased CSF protein concentration, Seizure, Hypoglycorrhachia, CSF lymphocytic pleiocytosis, Co...	ORPHA:228123
Robinow Syndrome, Autosomal Dominant 1	Wide nasal bridge, Depressed nasal bridge, Proptosis, Delayed eruption of teeth, Retrognathia, An...	OMIM:180700
Leprosy	Abnormal seventh cranial physiology, Abnormal autonomic nervous system physiology	ORPHA:548
Pseudoaminopterin Syndrome	Proptosis, Macrocephaly, Micrognathia, Prominent nasal bridge, Hydrocephalus, Hypertelorism	ORPHA:221120
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Micrognathia, Prominent nasal bridge, Hypertelorism, Short nose	ORPHA:1974
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal temper tantrums, Broad-based gait, Ventriculomegaly, Limb ataxia, Spontaneous, recurrent...	ORPHA:2072
Encephalocraniocutaneous Lipomatosis	Dandy-Walker malformation, Hydrocephalus, Seizure	OMIM:613001
Craniopharyngioma	Seizure, Obesity, Polyphagia, Hydrocephalus, Abnormal nasal bone morphology	ORPHA:54595
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Hypoplasia of the maxilla, Shallow orbits, Broad skull	OMIM:608328
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Seizure, Ataxia	OMIM:616084
Bartsocas-Papas Syndrome 1	Hypoplasia of the maxilla, Underdeveloped nasal alae, Micrognathia, Hypertelorism, Short nose	OMIM:263650
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Difficulty walking, Obesity, Microcephaly, Hypertelorism, Motor stereotypy, Hyposmia	OMIM:618653
Simpson-Golabi-Behmel Syndrome	Wide nasal bridge, Seizure, Anteverted nares, Hypertelorism, Dandy-Walker malformation, Macroceph...	ORPHA:373
Meier-Gorlin Syndrome 1	Hypoplasia of the maxilla, Failure to thrive, Micrognathia, Microcephaly, Small for gestational age	OMIM:224690
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Retrognathia, Seizure, Failure to thrive, Confusion, Slender build, Anteverted nares...	ORPHA:3455
Ear-Patella-Short Stature Syndrome	Hypoplasia of the maxilla, Failure to thrive, Retrognathia, Micrognathia, Microcephaly, Mandibula...	ORPHA:2554
3Mc Syndrome 2	Wide nasal bridge, Depressed nasal tip, Prominent nasal bridge, Prominence of the premaxilla, Hyp...	OMIM:265050
Pentalogy Of Cantrell	Encephalocele, Anencephaly, Hydrocephalus	ORPHA:1335
Williams Syndrome	Wide nasal bridge, Depression, Carious teeth, Hypoplasia of the zygomatic bone, Dental malocclusi...	ORPHA:904
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Proptosis, Failure to thrive, Seizure, Lateral ventricle dilatation, Prominent nose, Micrognathia...	OMIM:210710
Thakker-Donnai Syndrome	Bulbous nose, Communicating hydrocephalus, Anteverted nares, Hypertelorism	ORPHA:1780
1P36 Deletion Syndrome	Self-injurious behavior, Depressed nasal ridge, Wide nasal bridge, Depressed nasal bridge, Ventri...	ORPHA:1606
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus	OMIM:313850
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Aprosencephaly	OMIM:601374
Mucopolysaccharidosis, Type Vii	Recurrent upper respiratory tract infections, Hydrocephalus, Macrocephaly	OMIM:253220
Achondrogenesis, Type Ia	Depressed nasal bridge, Hypoplastic nasal bridge, Anteverted nares, Short nose	OMIM:200600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Hypoplasia of the brainstem, Hydrocephalus, Communicat...	OMIM:615287
Cutis Laxa, Autosomal Recessive, Type Ib	Depressed nasal bridge, Proptosis, Retrognathia, Bulbous nose, Micrognathia, Neonatal death, Prom...	OMIM:614437
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Narrow nose, Malar flattening, Cleft of chin, Shallow orbits, Convex n...	OMIM:101400
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel...	ORPHA:79430
Koolen-De Vries Syndrome	Abnormality of hair texture, Hypopigmentation of hair	ORPHA:96169
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Ventriculomegaly, Microretrognathia, Short columella, Hypertelorism, Dysesthesia, Short nose	OMIM:601776
Costello Syndrome	Depressed nasal bridge, Ventriculomegaly, Failure to thrive, Anteverted nares, Micrognathia, Hydr...	OMIM:218040
Fanconi Anemia	Choanal atresia, Ventriculomegaly, Proptosis, Micrognathia, Microcephaly, Weight loss, Hydrocepha...	ORPHA:84
Spondylodysplastic Ehlers-Danlos Syndrome	Depressed nasal bridge, Proptosis, Abnormality of the temporomandibular joint, Anteverted nares, ...	ORPHA:536471
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Spondylocarpotarsal Synostosis Syndrome	Broad nasal tip, Failure of eruption of permanent teeth, Anteverted nares, Enamel hypoplasia, Hyp...	OMIM:272460
Ablepharon Macrostomia Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Underdevelop...	ORPHA:920
Cryptococcosis	Mental deterioration, Memory impairment, Hydrocephalus, Seizure	ORPHA:1546
Stüve-Wiedemann Syndrome	Abnormal autonomic nervous system physiology	ORPHA:3206
C Syndrome	Depressed nasal bridge, Seizure, Failure to thrive in infancy, Anteverted nares, Micrognathia, Mi...	ORPHA:1308
H Syndrome	Chronic rhinitis, Proptosis, Hydrocephalus, Recurrent pharyngitis	ORPHA:168569
Heterotaxy, Visceral, 1, X-Linked	Failure to thrive, Myelomeningocele, Hydrocephalus, Hypertelorism, Aqueductal stenosis	OMIM:306955
Geleophysic Dysplasia 2	Tip-toe gait, Short nose, Hypertelorism	OMIM:614185
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Hydrocephalus, Short nose	ORPHA:505248
Aicardi Syndrome	Ventriculomegaly, Infantile spasms, Prominence of the premaxilla, Microcephaly, EEG abnormality	ORPHA:50
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia...	ORPHA:163746
Menke-Hennekam Syndrome 1	Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Seiz...	OMIM:618332
Lipodystrophy, Familial Partial, Type 7	Small for gestational age, Failure to thrive, Gait ataxia, Dysmetria, Distal sensory impairment, ...	OMIM:606721
Syndromic Diarrhea	Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati...	ORPHA:84064
Kabuki Syndrome 1	Wide nasal bridge, Lateral ventricle dilatation, Seizure, Depressed nasal tip, Bilateral tonic-cl...	OMIM:147920
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Wide nasal bridge, Ventriculomegaly, Microretrognathia, Micrognathia, Motor stereotypy, Microceph...	ORPHA:508498
Peters-Plus Syndrome	Ventriculomegaly, Hypoplasia of the maxilla, Seizure, Micrognathia, Decreased body weight, Microc...	OMIM:261540
Arima Syndrome	Hypoplasia of the brainstem, Brainstem dysplasia, Dilated fourth ventricle, Molar tooth sign on M...	OMIM:243910
Gaucher Disease, Type Iiic	Hydrocephalus, Seizure	OMIM:231005
Limb Body Wall Complex	Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Myelomeningocele, Encephalocele, Hydr...	ORPHA:2369
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Molar ...	OMIM:619479
Gaucher Disease	Ventriculomegaly, Depression, Hydrocephalus, Bilateral tonic-clonic seizure, Ataxia, Dysphagia, G...	ORPHA:355
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Choanal atresia, Depressed nasal bridge, Bulbous nose, Choanal stenosis, Hydrocephalus, Stillbirt...	ORPHA:95699
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Hydrocephalus, Seizure	ORPHA:137667
Peters Plus Syndrome	Depressed nasal bridge, Ventriculomegaly, Anteverted nares, Short columella, Micrognathia, Microc...	ORPHA:709
Pallister-Hall Syndrome	Choanal atresia, Depressed nasal ridge, Microretrognathia, Natal tooth, Macrocephaly, Large for g...	ORPHA:672
Linear Skin Defects With Multiple Congenital Anomalies 1	Microcephaly, Colpocephaly, Hydrocephalus, Seizure	OMIM:309801
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Proptosis, Prominent nasal bridge, Advanced eruption of teeth, Hypertelorism, ...	ORPHA:1519
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Wide nasal bridge, Micrognathia, Microcephaly, Hypertelorism, Short nose	OMIM:609945
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Ventriculomegaly, Hydrocephalus, Seizure	ORPHA:228308
Hydroxykynureninuria	Motor stereotypy	ORPHA:79155
Yunis-Varon Syndrome	Proptosis, Anteverted nares, Micrognathia, Severe failure to thrive, Narrow nasal base, Primary m...	ORPHA:3472
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Proptosis, Obesity, Micrognathia, Anteverted nares, Microcephaly, Short nose	ORPHA:444077
Williams-Beuren Syndrome	Depressed nasal bridge, Broad nasal tip, Dental malocclusion, Failure to thrive in infancy, Obesi...	OMIM:194050
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Seizure	ORPHA:157
Sponastrime Dysplasia	Depressed nasal bridge, Mandibular prognathia, Anteverted nares, Aplasia of the nasal bone, Hypop...	ORPHA:93357
Dextrocardia	Hydrocephalus	ORPHA:1666
Mowat-Wilson Syndrome	Broad-based gait, Decreased body weight, Deeply set eye, Prominent nasal tip, Ataxia, Atypical ab...	ORPHA:2152
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Chronic rhinitis, Hydrocephalus, Macrocephaly, Abnormality of visual e...	ORPHA:667
Phocomelia, Schinzel Type	Meningocele, Micrognathia, Short nose	ORPHA:2879
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal ridge, Depressed nasal bridge, Proptosis, Enlarged naris, Micrognathia, Malar fla...	OMIM:271665
Orofaciodigital Syndrome Type 14	Dilated third ventricle, Microretrognathia, Bulbous nose, Dilated fourth ventricle, Microcephaly,...	ORPHA:434179
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:285
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Myhre Syndrome	Craniofacial hyperostosis, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:2588
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:1101
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Depressed nasal tip, Malar flattening,...	OMIM:604292
Dyskeratosis Congenita	Taurodontia, Hypoplasia of the maxilla, Carious teeth	ORPHA:1775
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Short nose, Hypertelorism	OMIM:609942
Joubert Syndrome 5	Occipital encephalocele, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Ataxia	OMIM:610188
Geleophysic Dysplasia 1	Wide nasal bridge, Anteverted nares, Seizure, Short nose	OMIM:231050
Lymphangioleiomyomatosis	Hydrocephalus, Cognitive impairment, Seizure	ORPHA:538
Tetraamelia Syndrome 1	Choanal atresia, Micrognathia, Hydrocephalus, Single naris	OMIM:273395
Omodysplasia 1	Wide nasal bridge, Depressed nasal bridge, Micrognathia, Malar flattening, Short nose	OMIM:258315
Baller-Gerold Syndrome	Seizure, Underdeveloped nasal alae, Prominent nasal bridge, Micrognathia, Choanal stenosis, Hydro...	OMIM:218600
Biliary, Renal, Neurologic, And Skeletal Syndrome	Depressed nasal bridge, Lateral ventricle dilatation, Seizure, Failure to thrive, Anteverted nare...	OMIM:619534
Roberts-Sc Phocomelia Syndrome	Wide nasal bridge, Proptosis, Underdeveloped nasal alae, Narrow naris, Hyperplasia of the maxilla...	OMIM:268300
Okamoto Syndrome	Wide nasal bridge, Depressed nasal bridge, Proptosis, Underdeveloped nasal alae, Anteverted nares...	ORPHA:2729
Acrocephalopolydactylous Dysplasia	Short nose, Hypertelorism	OMIM:200995
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Lateral ventricle dilatation, Secondary microcephaly, Deeply set eye, Hypertelo...	ORPHA:261537
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Histiocytoid Cardiomyopathy	Hydrocephalus, Lethargy, Failure to thrive, Seizure	ORPHA:137675
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98754
Chédiak-Higashi Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi...	ORPHA:167
Glycogen Storage Disease Of Heart, Lethal Congenital	EEG with burst suppression, Hydrocephalus, Seizure	OMIM:261740
Pallister-Killian Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Proptosis, Delayed eruption of teeth...	OMIM:601803
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98793
Aspartylglucosaminuria	Wide nasal bridge, Carious teeth, Seizure, Hypertelorism, Mandibular prognathia, Short nose	ORPHA:93
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177901
Vici Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Ocular albinism	OMIM:242840
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Occipital encephalocele, Micrognathia, Microcephaly, Molar tooth ...	OMIM:615948
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Lateral ventricle dilatation, Secondary microcephaly, Deeply set eye, Hypertelo...	ORPHA:261552
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Simpson-Golabi-Behmel Syndrome, Type 1	Wide nasal bridge, Depressed nasal bridge, Dental malocclusion, Anteverted nares, Hypertelorism, ...	OMIM:312870
Joubert Syndrome 38	Molar tooth sign on MRI	OMIM:619476
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Wilson Disease	Seizure, Face of the giant panda sign, Decreased nerve conduction velocity, Hypoesthesia, Hyposmia	OMIM:277900
Focal Dermal Hypoplasia	Broad nasal tip, Dental malocclusion, Delayed eruption of teeth, Myelomeningocele, Narrow nasal b...	OMIM:305600
Loeys-Dietz Syndrome 1	Proptosis, Retrognathia, Micrognathia, Malar flattening, Hydrocephalus, Hypertelorism	OMIM:609192
Acromesomelic Dysplasia 1	Short nose	OMIM:602875
Menkes Disease	Woolly hair, Hypopigmentation of hair, Sparse hair	ORPHA:565
Femoral-Facial Syndrome	Ventriculomegaly, Underdeveloped nasal alae, Micrognathia, Encephalocele, Spina bifida, Short nose	OMIM:134780
Otopalatodigital Syndrome, Type Ii	Depressed nasal bridge, Micrognathia, Malar flattening, Hydrocephalus, Spina bifida, Stillbirth, ...	OMIM:304120
Lowe Oculocerebrorenal Syndrome	Ventriculomegaly, Failure to thrive, Seizure, Aggressive behavior, Enamel hypoplasia, Motor stere...	OMIM:309000
Loeys-Dietz Syndrome 2	Proptosis, Retrognathia, Micrognathia, Malar flattening, Hydrocephalus, Hypertelorism	OMIM:610168
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Hypoplasia of the maxilla	OMIM:180500
Branchiooculofacial Syndrome	Depressed nasal bridge, Broad nasal tip, Seizure, Micrognathia, Malar flattening, Microcephaly, C...	OMIM:113620
Hydrolethalus Syndrome 1	Midline defect of the nose, Micrognathia, Stillbirth, Bifid nose, Anencephaly, Dandy-Walker malfo...	OMIM:236680
Singleton-Merten Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Decreas...	OMIM:182250
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Gait disturbance, Hydrocephalus, Seizure	ORPHA:3042
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Hypopigmentation of hair	ORPHA:818
Cystinosis, Nephropathic	Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm...	OMIM:219800
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Townes-Brocks Syndrome 1	Choanal atresia, Microcephaly, Hydrocephalus, Holoprosencephaly, Small for gestational age	OMIM:107480
Craniofacial Microsomia 1	Hypoplasia of the maxilla, Occipital encephalocele, Micrognathia, Malar flattening, Hydrocephalus...	OMIM:164210
Exstrophy-Epispadias Complex	Microcephaly, Hydrocephalus, Spina bifida	ORPHA:322
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Waddling gait	OMIM:300106
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus, Focal-onset seizure, Seizure	OMIM:175780
Penile Agenesis	Depressed nasal bridge, Short nose	ORPHA:49

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hnrnph2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hnrnph2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1.	The Journal of clinical investigation (July 2023)	Hnrnph2^em1(IMPC)J	PMC10348767

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hnrnph2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Hnrnph2^{tm221040(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Hnrnph2^em1(IMPC)J	Intra-exon deletion	Mice
Hnrnph2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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