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Gene: Msi1 MGI:107376

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

musashi RNA-binding protein 1

Synonyms:

m-Msi-1, Musahi1, Msi1, Msi1h

Order Alleles

IMPC Data Collections

No Body Weight Data
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.

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.

Phenotype associated images not available

Human diseases caused by Msi1 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 Msi1 (0 diseases)
Human diseases predicted to be associated with Msi1 (1156 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Msi1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Choroideremia	Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm...	OMIM:303100
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Macular Dystrophy, Retinal, 2	Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal...	OMIM:608051
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Band Heterotopia	Spasticity, Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus ca...	OMIM:600348
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Leukoencephalopathy With Calcifications And Cysts	Leukoencephalopathy, Spasticity, Intracerebral periventricular calcifications, Cerebral hemorrhag...	ORPHA:542310
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Leukoencephalopathy, Progressive, With Ovarian Failure	Leukoencephalopathy, Spasticity, Lateral ventricle dilatation, Hand tremor, Periventricular leuko...	OMIM:615889
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe...	OMIM:620315
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Retinitis Pigmentosa 54	Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina...	OMIM:613428
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Polymicrogyria Due To Tubb2B Mutation	Abnormal corpus callosum morphology, Lateral ventricle dilatation, Dysgenesis of the basal gangli...	ORPHA:300573
Chudley-Mccullough Syndrome	Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ...	OMIM:604213
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Familial Cervical Artery Dissection	Dilatation of the cerebral artery, Transient ischemic attack, Paresthesia, Cerebral ischemia, Str...	ORPHA:36382
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, R...	OMIM:610951
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Lateral ventricle dilat...	ORPHA:363654
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Somatic sensory dysfunction, Paresthesia, Stroke, Cerebral...	ORPHA:324703
Pontocerebellar Hypoplasia, Type 12	Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Primary microcephaly, Polyhy...	OMIM:618266
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Polymicrogyria, Hydrocephalus, Thick corpus callosum, Megalencephaly	OMIM:615938
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Unilateral Hemispheric Polymicrogyria	Cerebral hypoplasia, Lateral ventricle dilatation, Hemiparesis, Cortical dysplasia, Thick cerebra...	ORPHA:101071
Dural Sinus Malformation	Myelopathy, Somatic sensory dysfunction, Abnormal facial vein morphology, Tetraparesis, Subdural ...	ORPHA:97339
Reversible Cerebral Vasoconstriction Syndrome	Leukoencephalopathy, Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebra...	ORPHA:284388
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Hydrocephalus, Ataxia, Corti...	OMIM:618709
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Leukoencephalopathy, Spasticity, Recurrent subcortical infarcts, Hemiplegia, Transient ischemic a...	ORPHA:136
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Lissencephaly 4	Agenesis of corpus callosum, Babinski sign, Colpocephaly, Primary microcephaly, Hypertonia, Lisse...	OMIM:614019
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Retinitis Pigmentosa 7	Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys...	OMIM:608133
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Cerebral cor...	ORPHA:306669
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Corticospinal tract atrophy	OMIM:551500
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Brain Small Vessel Disease 2	Ventriculomegaly, Polymicrogyria, Hemiplegia, Porencephalic cyst, Schizencephaly, Intracranial he...	OMIM:614483
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Leukoencephalopathy, Spasticity, Reduced cerebral white matter volume, Inability to walk, Seconda...	OMIM:620317
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep...	OMIM:615937
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Myoclonus, Stroke, Gait disturbance, Cerebral hemorrhage	ORPHA:324708
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Pineocytoma	Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia	ORPHA:251912
Pontocerebellar Hypoplasia, Type 1A	Tongue fasciculations, Neuronal loss in basal ganglia, Cerebral cortical atrophy, Lateral ventric...	OMIM:607596
Retinitis Pigmentosa 84	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:618220
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Paresthesia, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recu...	OMIM:605714
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Atypical Teratoid Rhabdoid Tumor	Cerebral palsy, Cerebral calcification, Hemiplegia/hemiparesis, Hydrocephalus, Ataxia	ORPHA:99966
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ...	OMIM:614500
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Paralysis, Cerebral hemorrhage	OMIM:603285
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Spastic Paraplegia 45, Autosomal Recessive	Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Babinski sign,...	OMIM:613162
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Ascites, Cerebral hemorrhage, Cer...	OMIM:617397
Methanol Poisoning	Abnormal corpus callosum morphology, Basal ganglia necrosis, Bilateral basal ganglia lesions, Inf...	ORPHA:31825
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal...	ORPHA:500166
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Spasticity, Dilation of Virchow-Robin spaces, Lateral ventricle dilatation, Microcephaly, Partial...	OMIM:619517
Primary Angiitis Of The Central Nervous System	Abnormal CSF protein concentration, Recurrent subcortical infarcts, Cerebral vasculitis, Tetrapar...	ORPHA:140989
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic...	ORPHA:79243
Masa Syndrome	Spastic paraplegia, Shuffling gait, Ventriculomegaly, Paraplegia, Agenesis of corpus callosum, Mi...	OMIM:303350
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Progressive spasticity, Short corpus callosum, Lateral ventricle dilatation	OMIM:619972
Retinitis Pigmentosa 6	Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy	OMIM:312612
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Retinal pigment epithelial mottling, Cerebellar vermis atrophy, Corpus callos...	OMIM:619389
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Microcephaly, Abn...	OMIM:617668
Aneurysm, Intracranial Berry, 12	Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar...	OMIM:618734
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Leukoencephalopathy, Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia ca...	OMIM:221770
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Subcortical cerebral atrophy, Hydroceph...	ORPHA:2703
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cerebral atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Abn...	OMIM:251270
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Masa Syndrome	Spastic paraplegia, Ventriculomegaly, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Gait d...	ORPHA:2466
Martsolf Syndrome 2	Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Spastic diplegia	OMIM:619420
Cerebral Cavernous Malformations 2	Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage	OMIM:603284
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Circumvallate Placenta Syndrome	Polyhydramnios, Intracranial hemorrhage	OMIM:215550
Autosomal Recessive Spastic Paraplegia Type 66	Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim...	ORPHA:401815
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Familial Afibrinogenemia	Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage	ORPHA:98880
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Spasticity, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hypert...	OMIM:618890
Dandy-Walker Syndrome	Hydrocephalus, Truncal ataxia, Dilated fourth ventricle, Posterior fossa cyst at the fourth ventr...	OMIM:220200
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Dilated fourth ventricle, Abno...	OMIM:613443
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Cerebral Amyloid Angiopathy, Cst3-Related	Stroke, Intracranial hemorrhage, Cerebral hemorrhage	OMIM:105150
Central Neurocytoma	Pain insensitivity, Abnormal lateral ventricle morphology, Paresthesia, Cerebral calcification, B...	ORPHA:73256
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Inability to walk, Gait ataxia, Pleural effusion, Hypoplasia of the...	OMIM:618606
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Tremor, Dysplastic corpus callosum, Cerebral white matter atrophy,...	ORPHA:599373
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Broad-based gait, Lateral ventricle dilatation, Inability to walk, Secondary microcep...	OMIM:617854
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Tongue fasciculations, Spasticity, Tetraparesis, Inability to walk, Dysplastic corpus callosum, M...	OMIM:618276
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Cach Syndrome	Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Limb ataxia, Oligohydramnios, Dysgyri...	ORPHA:135
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus...	ORPHA:401820
Microphthalmia-Brain Atrophy Syndrome	Spasticity, Lateral ventricle dilatation, Diffuse cerebral atrophy, Microcephaly, Corpus callosum...	ORPHA:77299
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebral cortical atrophy, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Subdur...	OMIM:618291
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Spasticity, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Cortica...	OMIM:614039
Combined Oxidative Phosphorylation Defect Type 39	Abnormal corpus callosum morphology, Involuntary movements, Tip-toe gait, Lateral ventricle dilat...	ORPHA:565624
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Sneddon Syndrome	Hemiplegia, Ischemic stroke, Tremor, Stroke, Impaired distal tactile sensation, Cerebral hemorrha...	OMIM:182410
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Alg2-Cdg	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ...	ORPHA:79326
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy	OMIM:619090
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Lissencephaly 3	Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of corpus callosum,...	OMIM:611603
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo...	ORPHA:169805
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Retinitis Pigmentosa 1	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:180100
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Cerebral Cavernous Malformations	Cerebral cavernous malformation, Intracranial hemorrhage, Cerebral calcification	OMIM:116860
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Joint swelling, Intracranial hemorrhage, Intr...	ORPHA:98878
Fibronectin Glomerulopathy	Hypertension, Pedal edema, Cerebral hemorrhage	ORPHA:84090
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Leber Congenital Amaurosis 8	Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti...	OMIM:613835
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:616816
Periventricular Nodular Heterotopia 1	Hypoplasia of the corpus callosum, Stroke, Cerebral hemorrhage, Thin corpus callosum, Patent duct...	OMIM:300049
Retinitis Pigmentosa 46	Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:612572
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Focal polymicrogyria, Dysgenesis of the basal ganglia, Dilated fourth ventricle, Primary microcep...	OMIM:615771
Epilepsy, Progressive Myoclonic, 9	Ventriculomegaly, Gait ataxia, Myoclonus, Agenesis of corpus callosum, Action myoclonus, Frequent...	OMIM:616540
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation, Myoclonus, Hypoplasia of the corpus callosum, Cerebral white matter...	ORPHA:284417
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Spastic paraplegia, Dilated third ventricle, Tip-toe gait, Lateral ventricle dilatation, Cerebral...	OMIM:617296
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Lateral ventricle dilatation, Poor fine motor coordination	OMIM:618330
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ...	OMIM:204100
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep...	ORPHA:3002
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Schizencephaly	Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum	OMIM:269160
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Abnormality of retinal pigmentation	ORPHA:2743
Internal Carotid Absence	Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia	ORPHA:981
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:616108
Adams-Oliver Syndrome 2	Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Oligohydramnios, Microcephaly, Li...	OMIM:614219
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, C...	OMIM:620371
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Lateral ventricle dilatation, Cerebral palsy, Cerebral atrophy, Myoclonus, Opisthoton...	OMIM:619847
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Tetraparesis, Periventri...	ORPHA:255182
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Congenital Factor Xiii Deficiency	Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ...	ORPHA:331
Spinocerebellar Ataxia 23	Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Age...	OMIM:610245
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Ischemic stroke, ...	ORPHA:90065
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Ventriculomegaly, Primary microcephaly, Agenesis of corpus callosum	ORPHA:171703
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Involuntary movements, Lateral ventricle dilatation, Inability to walk, Microcephaly, Thin corpus...	OMIM:615716
Autosomal Recessive Spastic Paraplegia Type 11	Cerebral cortical atrophy, Lateral ventricle dilatation, Lymphedema, Inability to walk, Abnormal ...	ORPHA:2822
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Ventriculomegaly, Edema, Agenesis of corpus callosum	OMIM:616570
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Periventricular white matter hyperintensities, Tremor, Microcephaly, Hydrocepha...	OMIM:619470
Pontocerebellar Hypoplasia, Type 15	Agenesis of corpus callosum, Hydrocephalus, Hypertonia, Partial agenesis of the corpus callosum, ...	OMIM:619302
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy, Dehydration	ORPHA:79159
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Spasticity, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the co...	OMIM:615599
Bilateral Generalized Polymicrogyria	Diffuse white matter abnormalities, Spasticity, Lateral ventricle dilatation, Hypoplasia of the c...	ORPHA:208447
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Dilation of Virchow-Robin spaces, Lateral ventricle dilatation, Cerebral palsy, Secondary microce...	ORPHA:2148
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Oculomotor apraxia, Ataxia, Thin ...	OMIM:608629
Wyburn-Mason Syndrome	Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ...	ORPHA:53719
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Aneurysm, Intracranial Berry, 1	Dilatation of the cerebral artery, Intracranial hemorrhage	OMIM:105800
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Ventriculomegaly, T2 hypointense basal ganglia, Open operculum, Subdural...	ORPHA:25
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Retinitis Pigmentosa 77	Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen...	OMIM:617304
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Ga...	ORPHA:488627
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Progressive spastic paraplegia, Hand tremor, Agenesis of corpus callos...	ORPHA:401830
Lissencephaly Due To Tuba1A Mutation	Spasticity, Ventriculomegaly, Dysgenesis of the basal ganglia, Polymicrogyria, Dilated fourth ven...	ORPHA:171680
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca...	OMIM:608716
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Chronic Hiccup	Dehydration	ORPHA:396
Retinitis Pigmentosa 83	Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema...	OMIM:618173
Alg13-Cdg	Clumsiness, Abnormal lateral ventricle morphology	ORPHA:324422
Retinitis Pigmentosa 2	Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c...	OMIM:312600
Hydrocephalus, Congenital, X-Linked	Spastic paraplegia, Spasticity, Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesi...	OMIM:307000
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Spasticity, Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Par...	OMIM:304100
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spina bifida occulta, Da...	OMIM:618736
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Snakebite Envenomation	Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Angioedema, Pseu...	ORPHA:449285
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Gait ataxia, Dysmetria, Agenesis of corpus callosum, Clumsiness, Babinski sign, Oculomotor apraxi...	ORPHA:453521
Retinitis Pigmentosa 43	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re...	OMIM:613810
Pontocerebellar Hypoplasia, Type 14	Agenesis of corpus callosum, Hydrocephalus, Hypertonia, Spastic tetraplegia, Simplified gyral pat...	OMIM:619301
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Reduced cerebral white matter volume, Inability to walk, Secondary microcephaly, Hypoplasia of th...	OMIM:618174
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage, Cerebral calcification, Cerebral amyloid angiopathy	ORPHA:100006
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
1P31P32 Microdeletion Syndrome	Moyamoya phenomenon, Ventriculomegaly, Intraventricular hemorrhage, Aplasia/Hypoplasia of the cor...	ORPHA:401986
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Calcification of falx cerebr...	OMIM:177850
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Lateral ventricle dilatation, Cardiomyopathy, Subependymal cysts, Multifoca...	OMIM:600721
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation	OMIM:602200
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Coarctation of aorta, Hypertension, Dehydration	OMIM:616069
Eem Syndrome	Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy	ORPHA:1897
Familial Multiple Nevi Flammei	Arteriovenous malformation, Pulmonary embolism, Hemiplegia, Cerebral calcification, Hemiparesis, ...	ORPHA:624
Retinitis Pigmentosa 25	Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret...	OMIM:602772
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	OMIM:613581
Wars2-Related Combined Oxidative Phosphorylation Defect	Leukoencephalopathy, Ventriculomegaly, Lateral ventricle dilatation, Cardiomyopathy, Cerebral atr...	ORPHA:572798
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Dengue Fever	Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ...	ORPHA:99828
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spasticity, Lateral ventricle dilatation, Polymicrogyria, Inability to walk, Type II lissencephal...	ORPHA:300570
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Ce...	ORPHA:280679
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Hand tremor, Impaired pain sensation, ...	ORPHA:99947
Cerebrooculofacioskeletal Syndrome 1	Ventriculomegaly, Basal ganglia calcification, Agenesis of corpus callosum, Diffuse cerebral atro...	OMIM:214150
Craniosynostosis 6	Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spina bifida occulta, Da...	OMIM:616602
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
2,4-Dienoyl-Coa Reductase Deficiency	Spasticity, Ventriculomegaly, Cerebral atrophy, Incoordination, Increased CSF lactate, Increased ...	OMIM:616034
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Tetraparesis, Paraparesis, Ataxia, Choreoathetosis, Dehydration	ORPHA:27
Developmental And Epileptic Encephalopathy 36	Abnormal bleeding, Cerebral atrophy, Abnormality of extrapyramidal motor function, Microcephaly, ...	OMIM:300884
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Hypoplasia of the corpus call...	ORPHA:488635
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration	OMIM:251850
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Spasticity, Absent septum pellucidum, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Hydroc...	ORPHA:2182
Lissencephaly 5	Leukoencephalopathy, Spastic paraplegia, Occipital encephalocele, Type II lissencephaly, Hypoplas...	OMIM:615191
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Spasticity, Dilated third ventricle, Dilation of Virchow-Robin spaces, Lateral ventricle dilatati...	ORPHA:544488
Alexander Disease	Increased CSF protein concentration, Spasticity, Dysmetria, Babinski sign, Hydrocephalus, Ataxia,...	OMIM:203450
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Glutamine Deficiency, Congenital	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Bradycardia, Decreased CSF gluta...	OMIM:610015
Aicardi-Goutieres Syndrome 9	Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Ascites, Basal ganglia calcification,...	OMIM:619487
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration	OMIM:164500
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular...	ORPHA:464321
Focal Facial Dermal Dysplasia Type Iv	Microcephaly, Intracranial hemorrhage, Hydrocephalus, Hemiparesis	ORPHA:398189
Giant Axonal Neuropathy 1, Autosomal Recessive	Spastic paraplegia, Lateral ventricle dilatation, Distal sensory impairment, Abnormal pyramidal s...	OMIM:256850
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen	OMIM:204000
Congenital Hydrocephalus	Small cerebral cortex, Abnormal cortical gyration, Ventriculomegaly, Colpocephaly, Hydrocephalus,...	ORPHA:2185
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p...	OMIM:618195
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Stroke, Cardiomyopathy, Choreoathetosis, Dehydration	ORPHA:79312
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
Slc35A2-Cdg	Lateral ventricle dilatation, Cerebral atrophy, Inability to walk, Tetralogy of Fallot, Hypoplasi...	ORPHA:356961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Alexander Disease Type I	Spasticity, Focal T2 hyperintense basal ganglia lesion, Abnormal pyramidal sign, Abnormal cerebra...	ORPHA:363717
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Episodic ataxia	ORPHA:420179
Fried Syndrome	Cerebral calcification, Gait disturbance, Hydrocephalus, Spastic diplegia	ORPHA:85335
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor...	ORPHA:169802
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Abnormal bleeding, Cerebral atrophy, Congestive heart failure, Increased CSF lactate,...	OMIM:616271
Sneddon Syndrome	Chorea, Arterial stenosis, Tremor, Hemiparesis, Intracranial hemorrhage, Hypertension	ORPHA:820
Pyruvate Carboxylase Deficiency	Ventriculomegaly, Tip-toe gait, Increased CSF citrulline concentration, Subependymal cysts, Incre...	ORPHA:3008
Intellectual Developmental Disorder, Autosomal Dominant 48	Lateral ventricle dilatation, Polymicrogyria, Dilated fourth ventricle, Hypoplasia of the corpus ...	OMIM:617751
Acys Amyloidosis	Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100008
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Dextrotransposition of the great arteries, Ankle clonus, Frequent f...	OMIM:619995
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Narp Syndrome	Cerebral cortical atrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Ro...	ORPHA:644
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Severe X-Linked Intellectual Disability, Gustavson Type	Spasticity, Lateral ventricle dilatation, Dilated fourth ventricle, Myoclonus, Microcephaly, Hype...	ORPHA:3078
Congenital Factor V Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo...	ORPHA:326
Glutaric Acidemia I	Lateral ventricle dilatation, Rigidity, Opisthotonus, Hydrocephalus, Choreoathetosis, Spastic dip...	OMIM:231670
Superficial Siderosis	Arteriovenous malformation, Abnormal pyramidal sign, Ataxia, Unsteady gait, Abnormal cerebrospina...	ORPHA:247245
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age...	OMIM:619244
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Craniotelencephalic Dysplasia	Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Frontal encephalocele, Septo-optic dysp...	ORPHA:1528
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Retinitis Pigmentosa 14	Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation...	OMIM:600132
Methylmalonic Acidemia With Homocystinuria	Microcephaly, Gait disturbance, Hydrocephalus	ORPHA:26
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:1466
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Dehydration, Edema	ORPHA:103910
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin...	OMIM:273800
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Spastic Paraplegia 11, Autosomal Recessive	Spastic paraplegia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the ...	OMIM:604360
Retinitis Pigmentosa 51	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Combined Malonic And Methylmalonic Acidemia	Microcephaly, Dehydration	ORPHA:289504
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Macular degeneration, Retinop...	ORPHA:816
Isovaleric Acidemia	Cerebellar hemorrhage, Dehydration	OMIM:243500
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cerebral atrophy, Small basal gan...	OMIM:616900
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Ventriculomegaly, Polymicrogyria, Akinesia, Agenesis of corpus callosum, Microce...	OMIM:225790
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Cerebral palsy, Petechiae,...	ORPHA:853
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1390
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi...	ORPHA:897
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Galloway-Mowat Syndrome 5	Spasticity, Ventriculomegaly, Periventricular leukomalacia, Primary microcephaly, Ataxia, Pachygy...	OMIM:617731
Gómez-López-Hernández Syndrome	Hydrocephalus, Impaired pain sensation, Ataxia	ORPHA:1532
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:264470
Combined Oxidative Phosphorylation Deficiency 47	Microcephaly, Dehydration	OMIM:618958
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation, Cerebral palsy, Hypoplasia of the corpus callosum, Hypertonia, Pulm...	OMIM:618914
Retinitis Pigmentosa 72	Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret...	OMIM:616469
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic...	ORPHA:79434
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
1Q21.1 Microduplication Syndrome	Tetralogy of Fallot, Hydrocephalus, Hypertonia	ORPHA:250994
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Microcephaly, Lateral ventricle dilatation	OMIM:619278
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Agenesis of corpus callosum, Hemiparesis, Hydrocephalus, Unsteady gait, Abnormality of the anteri...	OMIM:617542
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Autosomal Recessive Cutis Laxa Type 2A	Spasticity, Abnormal bleeding, Inability to walk, Secondary microcephaly, Dilated fourth ventricl...	ORPHA:357058
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microcephaly, Thin corpus callosum, Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:614105
Factor Xiii, A Subunit, Deficiency Of	Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ...	OMIM:613225
Cog5-Cdg	Lateral ventricle dilatation, Oligohydramnios, Diffuse cerebral atrophy, Cerebral white matter at...	ORPHA:263487
Pontocerebellar Hypoplasia Type 2	Spasticity, Abnormal cortical gyration, Ventriculomegaly, Upper limb hypertonia, Hypoplasia of th...	ORPHA:2524
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:613983
Enteric Anendocrinosis	Portal hypertension, Dehydration	ORPHA:83620
Congenital Factor Ii Deficiency	Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ...	ORPHA:325
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Dysgyria, Abnormal cerebral white matter morpholo...	ORPHA:352682
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Propionic Acidemia	Cerebral atrophy, Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia, Dehydration	OMIM:606054
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ventriculomegaly, Dilated cardiomyopathy, Polymicrogyria, Intracerebral periventricular calcifica...	OMIM:608836
Cerebral Visual Impairment	Focal cortical dysplasia, Cerebral palsy, Ischemic stroke, Clumsiness, Microcephaly, Oculomotor a...	ORPHA:447788
Papillary Tumor Of The Pineal Region	Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia	ORPHA:251915
Frontal Encephalocele	Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ...	ORPHA:1931
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Focal cortical dysplasia, Cardiomyopathy, Inability to walk, Hypoplasia of the corpus callosum, M...	OMIM:613155
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce...	OMIM:277450
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Dandy-Walker Malformation With Postaxial Polydactyly	Aortic valve stenosis, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Va...	OMIM:220220
Vitamin B12-Responsive Methylmalonic Acidemia	Dehydration	ORPHA:28
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Microcephaly, Intraventricular hemorrhage, Hydrocephalus, Polyhydramnios, Megal...	OMIM:613603
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Dworschak-Punetha Neurodevelopmental Syndrome	Dilation of Virchow-Robin spaces, Agenesis of corpus callosum, Dysplastic corpus callosum, Microc...	OMIM:619955
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li...	OMIM:300845
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cavum septum pellucidum, Abnor...	ORPHA:457279
Transient Neonatal Diabetes Mellitus	Dehydration	ORPHA:99886
X-Linked Intellectual Disability, Wilson Type	Microcephaly, Lateral ventricle dilatation	ORPHA:85290
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Lateral ventricle dilatation, Neurofibrillary tangles, Lewy bodies, Ap...	OMIM:607485
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Reduced cerebral white matter volume, Lateral ventricle dilatation, Thin corpus callosum, Parieta...	OMIM:620075
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Oligohydramnios, Periventricular leukomalacia, Abnormal caudate nuc...	ORPHA:293725
Familial Cold Urticaria	Dysesthesia, Dehydration	ORPHA:47045
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Type II lissencephaly, Agenesis of corpus callosum, Abnormal cerebral white mat...	OMIM:613153
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Hydrolethalus Syndrome 2	Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Tricuspid regurgitation, Probst bundles, Agenesis of corpus callosu...	OMIM:612863
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve...	ORPHA:364055
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Oligohydramnios, Hypertrophic cardiomyopathy	OMIM:620135
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Erythrocytosis, Familial, 2	Hypotension, Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Hydranencephaly	Cerebral cortical atrophy, Ventriculomegaly, Abnormal corpus striatum morphology, Dilatation of t...	ORPHA:2177
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Secondary microcep...	OMIM:619229
Polycythemia Vera	Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage	OMIM:263300
Peroxisome Biogenesis Disorder 6A (Zellweger)	Pachygyria, Colpocephaly	OMIM:614870
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Aicardi-Goutieres Syndrome 4	Spasticity, Ventriculomegaly, Cerebral atrophy, Cerebral calcification, CSF lymphocytic pleiocyto...	OMIM:610333
Retinal Dystrophy With Or Without Macular Staphyloma	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep...	OMIM:617547
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Mucolipidosis Iv	Dysplastic corpus callosum, Babinski sign, Microcephaly, Spastic tetraplegia, Cerebral dysmyelina...	OMIM:252650
Methylmalonyl-Coa Epimerase Deficiency	Spasticity, Dehydration	OMIM:251120
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas...	OMIM:610655
Factor Vii Deficiency	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction...	OMIM:227500
Weiss-Kruszka Syndrome	Dysplastic corpus callosum	ORPHA:502430
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Secondary microcephaly, Periventricular white matter hyperintensiti...	OMIM:619737
Reticular Dysgenesis	Dehydration	ORPHA:33355
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Oligohydramnios, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Perica...	ORPHA:163596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Type II lissencephaly, H...	OMIM:613154
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Nasu-Hakola Disease	Cerebral cortical atrophy, Spasticity, Ventriculomegaly, Cerebral calcification, Chorea, Oculomot...	ORPHA:2770
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Choroidal Atrophy-Alopecia Syndrome	Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation	ORPHA:1433
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Erythrocytosis, Familial, 1	Hypertension, Myocardial infarction, Cerebral hemorrhage	OMIM:133100
Congenital Toxoplasmosis	Ventriculomegaly, Ascites, Cerebral calcification, Microcephaly, Hydrocephalus	ORPHA:858
Pseudo-Torch Syndrome 3	Abnormal cerebral white matter morphology, Cerebral calcification, Hypertension, Cerebral hemorrhage	OMIM:618886
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Myoclonus, Dehydration, Ataxia	OMIM:560000
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Leukoencephalopathy, Poor fine motor coordination, Pulmonary embolism, Subdural hemorrhage, Dilat...	ORPHA:79282
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Difficulty w...	ORPHA:464738
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Juvenile Paget Disease	Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation	ORPHA:2801
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Abnormal globus pallidus morphology, Cerebellar hemorrhage, Cardiomyopathy, Dehydration	OMIM:251000
Familial Congenital Mirror Movements	Cerebral palsy, Abnormal corticospinal tract morphology, Agenesis of corpus callosum, Clumsiness,...	ORPHA:238722
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Cocaine Intoxication	Involuntary movements, Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS...	ORPHA:90068
Distal Deletion 10Q	Spasticity, Lateral ventricle dilatation, Cavum septum pellucidum, Microcephaly, Oculomotor aprax...	ORPHA:96148
Coach Syndrome 2	Oculomotor apraxia, Hypertension, Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitation, Dehy...	OMIM:212140
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Opisthotonus, Hydrocephalus, ...	OMIM:207950
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Dilated cardiomyopathy, Aplasia/Hypoplasia of the corpus callosum, Type II liss...	ORPHA:272
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Agenesis of co...	OMIM:300952
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling	OMIM:219900
Houge-Janssens Syndrome 2	Ventriculomegaly, Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of ...	OMIM:616362
Joubert Syndrome 14	Encephalocele, Hypoplasia of the corpus callosum, Hydrocephalus, Meningocele, Ataxia, Intracrania...	OMIM:614424
Noonan Syndrome 14	Aortic regurgitation, Bruising susceptibility, Lateral ventricle dilatation, Hypertrophic cardiom...	OMIM:619745
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Pyruvate Dehydrogenase E1-Beta Deficiency	Ventriculomegaly, Corticospinal tract hypoplasia, Periventricular cysts, Periventricular leukomal...	ORPHA:255138
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Night Blindness, Congenital Stationary, Type 1B	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:257270
Central Diabetes Insipidus	Dehydration	ORPHA:178029
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla...	OMIM:620156
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Combined Oxidative Phosphorylation Deficiency 25	Ventriculomegaly, Intraventricular hemorrhage, Cerebral atrophy	OMIM:616430
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:618577
Hellp Syndrome	Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Prolonged...	ORPHA:244242
Infantile Sialic Acid Storage Disease	Cerebral atrophy, Congestive heart failure, Ascites, Hydrocephalus, Hydrops fetalis	OMIM:269920
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c...	OMIM:187300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal corpus callosum morphology, Ventriculomegaly, Dilated third ventricle, Open operculum, L...	ORPHA:397715
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Cerebral cortical atrophy, Spasticity, Ventriculomegaly, Secondary microcephaly, Increased CSF la...	ORPHA:500144
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormal chorioretinal m...	ORPHA:5
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Mosaic Trisomy 1	Lateral ventricle dilatation, Polymicrogyria, Increased nuchal translucency, Agenesis of corpus c...	ORPHA:1692
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Mitral regurgitation, Megalencephaly, Polymicrogyria	ORPHA:83473
Developmental And Epileptic Encephalopathy 31B	Involuntary movements, Reduced cerebral white matter volume, Ventriculomegaly, Secondary microcep...	OMIM:620352
Congenital Muscular Dystrophy With Intellectual Disability	Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy	ORPHA:370968
Beta-Ketothiolase Deficiency	Spasticity, Hypotension, Edema, Extrapyramidal dyskinesia, Ataxia, Hypertension, Dehydration	ORPHA:134
Factor X Deficiency	Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge...	OMIM:227600
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Dehydration	OMIM:620125
3-Hydroxy-3-Methylglutaric Aciduria	Leukoencephalopathy, Spasticity, Hypotension, Dilated cardiomyopathy, Dehydration, Myoclonus, Spa...	ORPHA:20
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T...	OMIM:619649
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Cerebral palsy, Periventricular leukomalacia, Microcephaly, Colpocephaly, Hydro...	OMIM:619833
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment...	OMIM:609033
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Developmental And Epileptic Encephalopathy 49	Spasticity, Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, Myoclonus, Dys...	OMIM:617281
Neurocutaneous Melanocytosis	Ventriculomegaly, Hemiparesis, Meningocele, Intracranial hemorrhage, Dandy-Walker malformation	ORPHA:2481
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Corticosterone Methyloxidase Type Ii Deficiency	Orthostatic hypotension, Dehydration	OMIM:610600
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Leukoencephalopathy, Spasticity, Facial paralysis, Dilation of Virchow-Robin spaces, Focal cortic...	OMIM:175780
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art...	OMIM:600376
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Increased CSF lactate, Myoclonus, Microcephaly, Intraventricular hemorrhage, Clonus, Prolonged pr...	OMIM:619055
Cystinosis	Portal hypertension, Abnormal pyramidal sign, Gait disturbance, Dehydration	ORPHA:213
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Brain atrophy	OMIM:619059
Hemophilia B	Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist...	ORPHA:98879
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Congenital Alpha2-Antiplasmin Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag...	ORPHA:79
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy, Rod-cone dystrophy	OMIM:268020
Hypercalcemia, Infantile, 1	Dehydration	OMIM:143880
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation	ORPHA:3085
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Dehydration	OMIM:203400
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Dehydration	OMIM:264350
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Spasticity, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly...	OMIM:614833
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Dehydration	OMIM:602722
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, ...	OMIM:218350
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus, Megalencephaly, Thick corpus callosum	OMIM:248000
Congenital Muscular Dystrophy With Cerebellar Involvement	Diffuse white matter abnormalities, Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Po...	ORPHA:370959
Intellectual Developmental Disorder, Autosomal Recessive 68	Microcephaly, Periventricular leukomalacia, Hydrocephalus	OMIM:618302
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Spastic tetraplegia, Congestive heart failure	OMIM:300886
Alternating Hemiplegia Of Childhood	Episodic hemiplegia, Tetraparesis, Cardiomyopathy, Abnormal T-wave, Chorea, Cardiac conduction ab...	ORPHA:2131
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo...	OMIM:620300
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Arteriovenous malformation, Chylothorax, Abnormal bleeding, Lymphedema, Congestive hea...	ORPHA:137667
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Autosomal Recessive Spastic Paraplegia Type 15	Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks	ORPHA:100996
Fetal Gaucher Disease	Intracranial hemorrhage, Hydrops fetalis, Hypertonia	ORPHA:85212
Bainbridge-Ropers Syndrome	Lateral ventricle dilatation, Inability to walk, Hypoplasia of the corpus callosum, Microcephaly,...	OMIM:615485
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Early-Onset Familial Hypoaldosteronism	Hypotension, Orthostatic hypotension, Dehydration	ORPHA:556030
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Dehydration	OMIM:602199
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Patent ductus arteriosus, Hypoplasia of the corpus callosum	ORPHA:1516
Even-Plus Syndrome	Dysplastic corpus callosum, Oligohydramnios, Agenesis of corpus callosum	OMIM:616854
Harlequin Ichthyosis	Sudden cardiac death, Dehydration	ORPHA:457
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr...	ORPHA:465
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Spasticity, Ventriculomegaly, Cerebral atrophy, Abnormal per...	OMIM:272200
Weaver Syndrome	Spasticity, Ventriculomegaly, Lateral ventricle dilatation, Absent septum pellucidum, Hypertonia,...	OMIM:277590
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Polymicrogyria, Hydrocephalus, Cavum septum pellucidum, Megalencephaly	OMIM:602501
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Spasticity, Oligohydramnios, Increased nuchal translucency, Fetal intraventricular hemorrhage, Li...	OMIM:618480
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ...	ORPHA:774
Intellectual Developmental Disorder, Autosomal Dominant 39	Thin corpus callosum, Hydrocephalus, Cerebral atrophy	OMIM:616521
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Dehydration, Oligohydramnios, Microcephaly, Lissencephaly	OMIM:208085
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time, Lymphedema	ORPHA:3226
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Vascular ring, Polymicrogyria, Mitral regurgitation, Hypoplasia of the corpus c...	OMIM:603387
Thanatophoric Dysplasia Type 2	Ventriculomegaly, Increased nuchal translucency, Encephalocele, Hydrocephalus, Polyhydramnios, Ho...	ORPHA:93274
Medulloblastoma	Dysmetria, Cerebellar hemorrhage, Hydrocephalus, Ataxia, Cerebellar ataxia associated with quadru...	ORPHA:616
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:615986
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:2518
L1 Syndrome	Spasticity, Hemiplegia/hemiparesis, Gait disturbance, Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Dehydration	OMIM:177735
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Congenital Sialidosis Type 2	Spasticity, Cherry red spot of the macula, Ascites, Abnormal EKG, Myoclonus, Petechiae, Dysmetria...	ORPHA:93400
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Gabriele-De Vries Syndrome	Aortopulmonary collateral arteries, Lateral ventricle dilatation, Tip-toe gait, Tremor, Cortical ...	OMIM:617557
Tempi Syndrome	Ascites, Intracranial hemorrhage, Telangiectasia, Transudative pleural effusion	ORPHA:284227
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess...	OMIM:616959
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cerebral cortical atrophy, Spasticity, Lateral ventricle dilatation, Secondary microcephaly, Abse...	OMIM:300868
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:29072
Congenital Rubella Syndrome	Patent ductus arteriosus, Abnormality of retinal pigmentation	ORPHA:290
Riddle Syndrome	Poor hand-eye coordination, Telangiectasia, Clumsiness, Conjunctival telangiectasia, Gait disturb...	ORPHA:420741
Vascular Hyalinosis	Hematochezia, Cerebral calcification, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Wolcott-Rallison Syndrome	Difficulty walking, Ascites, Microcephaly, Double outlet right ventricle, Dehydration	ORPHA:1667
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Spasticity, Myoclonus, Microcephaly, Abnormal cerebral white matter morphology, Cardiac arrest, D...	OMIM:246450
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Congenital Disorder Of Glycosylation, Type Iig	Microcephaly, Progressive microcephaly, Lateral ventricle dilatation, Cerebral atrophy	OMIM:611209
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ventriculomegaly, Spastic paraparesis, Abnormal periventricular white matter morphology, Hemipare...	ORPHA:395
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Chylothorax, Subdural hemorrhage, Cerebral hemorrhage	OMIM:620278
Zika Virus Disease	Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Spasticity, Ventriculomegaly, Difficulty walking, Cerebral calcification, Rigidity, Agenesis of c...	OMIM:618476
Pontocerebellar Hypoplasia, Type 7	Tongue fasciculations, Spasticity, Spastic paraplegia, Ventriculomegaly, Cerebral atrophy, Myoclo...	OMIM:614969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy	OMIM:613156
Congenital Short Bowel Syndrome	Dehydration	OMIM:615237
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Hemiplegia, Gait disturbance, Hydrocephalus	ORPHA:2181
Arachnoid Cyst	Enlarged fossa interpeduncularis, Tetraparesis, Inability to walk, Paresthesia, Encephalocele, Di...	ORPHA:2356
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Opisthotonus, Microcephaly, Hypertonia, Polyhydramnios, Spastic tet...	OMIM:614098
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:300578
Krabbe Disease	Increased CSF protein concentration, Diffuse cerebral atrophy, Hydrocephalus, Hypertonia, Decereb...	OMIM:245200
Glucose/Galactose Malabsorption	Hypertonic dehydration	OMIM:606824
Retinitis Pigmentosa	Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal...	ORPHA:791
Arthrogryposis, Distal, Type 5	Retinal fold, Abnormality of retinal pigmentation	OMIM:108145
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Speech apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Hydrocepha...	OMIM:609757
Autosomal Agammaglobulinemia	Dehydration	ORPHA:33110
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly, Increased CSF lactate, Hypertonia	OMIM:604273
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Retinal degeneration, Optic disc pa...	ORPHA:79264
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:216866
Microcephaly 26, Primary, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Hypoplasia of the corpus callosum...	OMIM:619179
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Arrhythmia, Dehydration	ORPHA:171876
Leigh Syndrome, Nuclear	Optic atrophy, Pigmentary retinopathy	OMIM:256000
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Edema, Bruising susceptibility, Intracranial hemorrhage, ...	ORPHA:324636
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communi...	OMIM:615219
Muscle-Eye-Brain Disease	Hemiplegia/hemiparesis, Gait disturbance, Hydrocephalus, Hypertonia, Meningocele, Holoprosencephaly	ORPHA:588
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Peripheral pulmonary artery stenosis, Dilated third ventricle, Lateral ventricle di...	OMIM:619575
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebral palsy, Appendicular spasticity, Dysplastic corpus callosum, Microcephaly, Simplified gyr...	OMIM:620001
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Spastic paraplegia, Epistaxis, Second degree atrioventricular block, Cerebral palsy, Pulmonary ar...	ORPHA:369929
Cerebrofacioarticular Syndrome	Ventriculomegaly, Lymphedema, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dys...	ORPHA:314679
Menkes Disease	Babinski sign, Intracranial hemorrhage, Microcephaly, Hypertonia	OMIM:309400
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Polyhydramnios, Spasticity, Dysplastic corpus callosum, Hypertrophic cardiomyopathy	OMIM:618810
Pettigrew Syndrome	Spasticity, Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, Gait ataxia, M...	OMIM:304340
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cerebral atrophy, Abnormal septum pellucidum morphology, Hydrocephalus, Hypertonia, Spastic tetra...	ORPHA:171839
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Microvillus Inclusion Disease	Dehydration, Hypovolemia	ORPHA:2290
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Microcephaly, Colpocephaly, Polymicrogyria	OMIM:618731
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi...	ORPHA:494424
Thanatophoric Dysplasia	Ventriculomegaly, Increased nuchal translucency, Hydrocephalus, Polyhydramnios, Patent ductus art...	ORPHA:2655
Choreoacanthocytosis	Resting tremor, Lateral ventricle dilatation, Loss of ambulation, Parkinsonism, Frontal cortical ...	ORPHA:2388
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:268315
Vici Syndrome	Optic atrophy, Cerebral cortical atrophy, Hypopigmentation of the skin, Abnormal macular morpholo...	ORPHA:1493
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert...	OMIM:171300
Trisomy 1Q	Ventriculomegaly, Increased nuchal translucency, Agenesis of corpus callosum, Hydrocephalus, Poly...	ORPHA:261344
Osteootohepatoenteric Syndrome	Hydrocephalus, Dehydration	OMIM:619377
Griscelli Syndrome	Spasticity, Ascites, Encephalocele, Hydrocephalus, Ataxia, Pedal edema	ORPHA:381
Lamellar Ichthyosis	Dehydration	ORPHA:313
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio...	ORPHA:91387
Joubert Syndrome With Renal Defect	Polymicrogyria, Encephalocele, Tremor, Agenesis of corpus callosum, Oculomotor apraxia, Gait dist...	ORPHA:220497
Hydrolethalus	Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Polyhydramnios, Anencephaly	ORPHA:2189
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Arteriovenous malformation, Ascites, Tetralogy of Fallot, Portal hyp...	ORPHA:974
Congenital Disorder Of Glycosylation, Type Iil	Abnormal cortical gyration, Ventriculomegaly, Abnormal bleeding, Cerebral atrophy, Hypoplasia of ...	OMIM:614576
Osteogenesis Imperfecta	Arterial dissection, Aortic regurgitation, Ventriculomegaly, Aortic root aneurysm, Somatic sensor...	ORPHA:666
Lethal Congenital Contracture Syndrome 5	Polyhydramnios, Retinal hemorrhage, Subdural hemorrhage	OMIM:615368
Neurocardiofaciodigital Syndrome	Lateral ventricle dilatation, Tetralogy of Fallot, Dilated fourth ventricle, Hypoplasia of the co...	OMIM:619869
Secondary Short Bowel Syndrome	Dehydration, Atherosclerosis	ORPHA:95427
Weiss-Kruszka Syndrome	Ventriculomegaly, Dextrotransposition of the great arteries, Hypoplasia of the corpus callosum, A...	OMIM:618619
Acquired Purpura Fulminans	Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage	ORPHA:49566
Alkuraya-Kucinskas Syndrome	Lissencephaly, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Pleural effusion, Ocu...	OMIM:617822
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Axonal degeneration, Bone spi...	ORPHA:88628
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Secondary microcephaly, Oligohydramnios, Hypoplasia of the corpus callosum, Agenesis of corpus ca...	OMIM:620113
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyria, Microcephaly, Choroid plex...	OMIM:304050
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of r...	ORPHA:2715
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Spasticity, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hypert...	OMIM:618367
Meningioma	Hemifacial spasm, Difficulty walking, Abnormal central motor function, Cerebral hemorrhage, Hemip...	ORPHA:2495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Lissencephaly, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Encephalocele, Agen...	OMIM:253800
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Clumsiness, Microcephaly	OMIM:300558
B4Galt1-Cdg	Dandy-Walker malformation, Abnormal bleeding, Hydrocephalus, Edema	ORPHA:79332
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
Koolen-De Vries Syndrome Due To A Point Mutation	Ventriculomegaly, Cardiomyopathy, Speech apraxia, Hypoplasia of the corpus callosum, Agenesis of ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ventriculomegaly, Cardiomyopathy, Speech apraxia, Hypoplasia of the corpus callosum, Agenesis of ...	ORPHA:363958
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Type II lissencephaly, Agenesis of corpus callosum, Microcephaly, Progressive microcephaly, Hydro...	OMIM:615249
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Peho Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Peripheral edema, Microcephaly, Hydrocephalus, Palpe...	ORPHA:2836
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Hydrocephalus, Ventriculomegaly, Vascular dilatation	OMIM:219730
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Encephalocele,...	ORPHA:1908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Type II lissencephaly, Leukoencephalopathy, Hydrocephalus, Polymicrogyria	OMIM:615181
Cholera	Hypovolemic shock, Hypotension, Stroke, Tachycardia, Dehydration	ORPHA:173
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:175700
Prader-Willi Syndrome Due To Translocation	Cerebral cortical atrophy, Lateral ventricle dilatation, Oligohydramnios, Microcephaly, Patent du...	ORPHA:177907
6P22 Microdeletion Syndrome	Hydrocephalus, Patent ductus arteriosus	ORPHA:251046
Emanuel Syndrome	Aortic valve stenosis, Ventriculomegaly, Cerebral atrophy, Oligohydramnios, Hypoplasia of the cor...	OMIM:609029
Bardet-Biedl Syndrome 17	Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615994
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Anasarca, Cardiomyopathy, Congestive heart failure, Ascites, Hypertrophic cardiomyop...	OMIM:261740
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh...	ORPHA:99901
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Tenorio Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Cerebral palsy, Clumsiness, Syncope, Gait disturbanc...	OMIM:616260
Halperin-Birk Syndrome	Ventriculomegaly, Semilobar holoprosencephaly, Pseudobulbar paralysis, Inability to walk, Agenesi...	OMIM:618651
Netherton Syndrome	Dehydration	ORPHA:634
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Elevated pulmonary artery pressure, Edema	OMIM:178400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Hydrops fetalis, Lateral ventricle dilatation, Pachygyria	OMIM:263520
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebral hypoplasia, Abnormal cortical gyration, Lateral ventricle dilatation, Polymicrogyria, Te...	OMIM:210710
Aspergillosis	Stroke, Intracranial hemorrhage, Pleural effusion	ORPHA:1163
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Extrapyramidal muscular rigidity, Chorea, T...	ORPHA:94093
Parkes Weber Syndrome	Arteriovenous malformation, Somatic sensory dysfunction, Vascular tortuosity, Abnormal bleeding, ...	ORPHA:90307
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Oligohydramnios, Portal hypertension, Hematemesis, Hypertension, Dehydration	OMIM:263200
Kyphoscoliotic Ehlers-Danlos Syndrome	Subdural hemorrhage, Bruising susceptibility, Difficulty walking, Arterial rupture, Aortic aneury...	ORPHA:536545
Joubert Syndrome With Ocular Defect	Polymicrogyria, Encephalocele, Tremor, Agenesis of corpus callosum, Oculomotor apraxia, Gait dist...	ORPHA:220493
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Thanatophoric Dysplasia Type 1	Ventriculomegaly, Increased nuchal translucency, Hydrocephalus, Polyhydramnios, Patent ductus art...	ORPHA:1860
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Abnormal cerebral cortex morphology, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ...	OMIM:613843
Alexander Disease	Spasticity, Hypotension, Chorea, Cerebral calcification, Tremor, Agenesis of corpus callosum, Hyp...	ORPHA:58
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Dehydration	OMIM:615453
Intellectual Developmental Disorder, Autosomal Dominant 65	Clumsiness, Agenesis of corpus callosum, Noncommunicating hydrocephalus, Ataxia	OMIM:619320
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Abnormal EKG, Syncope, Orthostatic hypotension, Dehydration	ORPHA:230
Oxoglutaric Aciduria	Hydrocephalus, Hypertonia, Ataxia	ORPHA:31
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Spasticity, Hydromyelia, Occipital encephalocele, Ventriculomegaly, Type II lissencephaly, Absent...	OMIM:615287
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Dehydration, H...	ORPHA:31824
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Acute Transverse Myelitis	Impaired vibratory sensation, Spasticity, Increased CSF protein concentration, Somatic sensory dy...	ORPHA:139417
Mirage Syndrome	Paraplegia, Petechiae, Hydrocephalus, Intracranial hemorrhage, Patent ductus arteriosus	OMIM:617053
Desmosterolosis	Lissencephaly, Spasticity, Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Absent s...	ORPHA:35107
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Gait disturbance, Hydrocephalus, Polyhydramnios	ORPHA:1812
Emanuel Syndrome	Aortic valve stenosis, Ventriculomegaly, Cerebral atrophy, Oligohydramnios, Truncus arteriosus, A...	ORPHA:96170
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Stroke, Focal white matter lesions	ORPHA:557003
Whipple Disease	Gastrointestinal hemorrhage, Hypotension, Myoclonus, Abnormal pyramidal sign, Hydrocephalus, Atax...	ORPHA:3452
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage	OMIM:301081
Hec Syndrome	Polyhydramnios, Arrhythmia, Communicating hydrocephalus, Cardiomyopathy	ORPHA:2119
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Hypophosphatasia, Infantile	Polyhydramnios, Intracranial hemorrhage	OMIM:241500
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hydrocephalus	OMIM:601794
Adrenal Hypoplasia, Congenital	Dehydration	OMIM:300200
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:619479
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal bleeding, Basal ganglia calcification, A...	ORPHA:398124
Joubert Syndrome	Aplasia/Hypoplasia of the corpus callosum, Polymicrogyria, Encephalocele, Tremor, Oculomotor apra...	ORPHA:475
Houge-Janssens Syndrome 1	Ventriculomegaly, Gait ataxia, Hydrocephalus	OMIM:616355
Diabetic Embryopathy	Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Abnormal aorti...	ORPHA:1926
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Arteriovenous malformation, Polymicrogyria, Cerebral ischemia, Arrhythmia, Tela...	ORPHA:60040
Methylmalonic Aciduria, Cbla Type	Dehydration, Tremor	OMIM:251100
Isolated Posterior Meningocele	Hydromyelia, Difficulty walking, Paraplegia, Hydrocephalus, Hypertonia, Lipomyelomeningocele, Men...	ORPHA:268810
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation, Cerebral atrophy, Oligohydramnios, Hypoplasia of the corpus callosu...	OMIM:300896
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction	ORPHA:585
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Absent septum pellucidum, Microcephaly, Double outlet...	OMIM:619895
Spondyloenchondrodysplasia	Vasculitis, Spasticity, Ventriculomegaly, Chorea, Abnormal lateral ventricle morphology, Cerebral...	ORPHA:1855
Meckel Syndrome, Type 4	Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Meningocele, Anenc...	OMIM:611134
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Paresthesia, Palpitations, Intracranial hemorrhage, Hypertension	ORPHA:231625
Familial Hyperaldosteronism Type I	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:403
Glucose-Galactose Malabsorption	Dehydration	ORPHA:35710
Familial Hyperaldosteronism Type Ii	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:404
Congenital Tufting Enteropathy	Dehydration	ORPHA:92050
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Spasticity, Abnormal cerebral cortex morphology, Progressive ventriculomegaly, Lateral ventricle ...	ORPHA:500150
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Dehydration	OMIM:251110
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Decreased nerve conduction velocity, F...	OMIM:610651
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Microcephaly, Abnormal cerebral white matter morphology, Hydrocephalus, Hyperte...	ORPHA:2169
Dpagt1-Cdg	Cerebral cortical atrophy, Anasarca, Inability to walk, Akinesia, Stroke-like episode, Tremor, Hy...	ORPHA:86309
Triploidy	Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Polyhydramnios, Meningocele, Holoprosen...	ORPHA:3376
Isolated Permanent Neonatal Diabetes Mellitus	Hypovolemia, Apraxia, Dehydration, Ataxia	ORPHA:99885
Lysosomal Acid Lipase Deficiency	Hypotension, Ascites, Coronary artery atherosclerosis, Stroke, Pulmonary arterial hypertension, P...	ORPHA:275761
Cutis Laxa, Autosomal Recessive, Type Iib	Bruising susceptibility, Vascular tortuosity, Agenesis of corpus callosum, Microcephaly, Prominen...	OMIM:612940
Refsum Disease	Abnormality of retinal pigmentation, Retinopathy	ORPHA:773
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Walker-Warburg Syndrome	Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Absent septum pellucidum, Agenesis ...	ORPHA:899
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Dehydration	OMIM:214700
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:251274
Kaposiform Lymphangiomatosis	Epistaxis, Abnormal bleeding, Bruising susceptibility, Pleural effusion, Abnormal lymphatic vesse...	ORPHA:464329
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Hypoplasia of the corpus callosum, Agenesis of corpus callo...	OMIM:613001
Renal Hypoplasia	Hypertension, Dehydration	ORPHA:93101
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Microcephaly	OMIM:618010
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly, Patent ductus arteriosus, Agenesis of corpus callosum	ORPHA:77298
Mosaic Variegated Aneuploidy Syndrome 1	Cerebral hypoplasia, Ventriculomegaly, Oligohydramnios, Agenesis of corpus callosum, Microcephaly...	OMIM:257300
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Cerebral atrophy	OMIM:222300
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Microcephaly, Gait disturbance, Hydrocephalus	OMIM:613330
Dend Syndrome	Dehydration	ORPHA:79134
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cerebral atrophy, Microcephaly, Double outlet right ventricle, Hydrocephalus, Patent ductus arter...	OMIM:614886
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypovolemia, Hypotension, Dehydration, Agenesis of corpus callosum	ORPHA:168558
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Encephalocele, Hypoplasia of the corpus ...	OMIM:614643
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Secondary microcephaly, Hydrocephalus, Hypertonia, Dandy-Walker malf...	OMIM:612938
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypovolemia, Hypotension, Dehydration, Agenesis of corpus callosum	ORPHA:289548
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage	ORPHA:79284
Combined Oxidative Phosphorylation Deficiency 12	Leukoencephalopathy, Spastic tetraparesis, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:614924
1Q44 Microdeletion Syndrome	Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:238769
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Mitral stenosis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum...	OMIM:617260
Hyperoxaluria, Primary, Type I	Atrioventricular block, Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Periph...	OMIM:259900
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
Desmosterolosis	Spasticity, Total anomalous pulmonary venous return, Ventriculomegaly, Aplasia/Hypoplasia of the ...	OMIM:602398
Micro Syndrome	Optic atrophy, Cerebral cortical atrophy, Abnormality of retinal pigmentation, Retinal coloboma	ORPHA:2510
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Pearson Syndrome	Cardiomyopathy, Increased CSF lactate, Cardiac conduction abnormality, Microcephaly, Corneal stro...	ORPHA:699
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Exces...	ORPHA:99826
Kapur-Toriello Syndrome	Polymicrogyria, Tetralogy of Fallot, Dysplastic corpus callosum, Pachygyria, Patent ductus arteri...	ORPHA:2328
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly, Spasticity	OMIM:619423
Hemangioblastoma	Hydrocephalus, Dysesthesia	ORPHA:252054
Intellectual Developmental Disorder, Autosomal Dominant 70	Microcephaly, Hypoplasia of the corpus callosum, Hydrocephalus, Retinal telangiectasia	OMIM:620157
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension, Dehydration	ORPHA:90791
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Periventricular leukomalacia, Hypoplasia of the corpus...	ORPHA:500055
Glycogen Storage Disease Ii	Sinus tachycardia, Difficulty walking, Dilatation of the cerebral artery, Pleural effusion, Short...	OMIM:232300
Tarp Syndrome	Tetralogy of Fallot, Oligohydramnios, Athetosis, Subdural hemorrhage	OMIM:311900
Tetraamelia-Multiple Malformations Syndrome	Polyhydramnios, Septo-optic dysplasia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Oligomeganephronia	Hypertension, Dehydration, Pulmonary venous occlusion	ORPHA:2260
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation, Congestive heart failure, Supraventricular tachycardia, Palpebral e...	OMIM:181270
Myopathy, Centronuclear, X-Linked	Polyhydramnios, Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Hemiplegia/hemipares...	ORPHA:1647
Bannayan-Riley-Ruvalcaba Syndrome	Arteriovenous malformation, Lymphedema, Subcutaneous hemorrhage, Telangiectasia, Angina pectoris,...	ORPHA:109
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Shigellosis	Myocarditis, Hypovolemic shock, Purpura, Dehydration	ORPHA:810
Edinburgh Malformation Syndrome	Hydrocephalus, Hypertonia	ORPHA:1895
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Microcephaly, Cerebral hemorrhage, Unsteady gait, Patent ductus arteriosus	OMIM:616682
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ...	ORPHA:1969
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effusion, Petech...	ORPHA:340
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Oculomotor apraxia, Hydrocephalus	OMIM:615630
Chromosome 1P36 Deletion Syndrome, Distal	Leukoencephalopathy, Cerebral cortical atrophy, Dilated cardiomyopathy, Aortic root aneurysm, Lat...	OMIM:607872
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Hydrocephalus, Dandy-W...	OMIM:220210
Pallister-Hall-Like Syndrome	Microcephaly, Occipital encephalocele, Hydrocephalus	OMIM:241800
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Retinal hemorrhage, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Ascites...	ORPHA:99827
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Chromosome 6Pter-P24 Deletion Syndrome	Tetralogy of Fallot, Agenesis of corpus callosum, Telangiectasia, Hydrocephalus, Patent ductus ar...	OMIM:612582
Amelocerebrohypohidrotic Syndrome	Spasticity, Hydrocephalus	ORPHA:1946
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Generalized edema, Spasticity, Bidirectional shunt, Pulmonary artery dilata...	OMIM:619534
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:459061
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Ataxia	ORPHA:1861
Cohen Syndrome	Chorioretinal dystrophy, Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the ...	OMIM:216550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpus callosum, Hydr...	OMIM:616538
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Ventriculomegaly, Cardiomyopathy, Polymicrogyria, Intracerebral periventricular calcifications, C...	ORPHA:228308
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Patent ductus arteriosus, Left-to-right shunt	ORPHA:363444
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ...	ORPHA:85167
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Isolated Exencephaly	Polyhydramnios, Hypoplasia of the frontal bone, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:563612
Arachnoiditis	Hydrocephalus	ORPHA:137817
Tetrasomy 5P	Congestive heart failure, Pericallosal lipoma, Pulmonary arterial hypertension, Hydrocephalus, He...	ORPHA:3309
Fanconi Anemia, Complementation Group I	Microcephaly, Colpocephaly, Absent septum pellucidum, Agenesis of corpus callosum	OMIM:609053
Helsmoortel-Van Der Aa Syndrome	Heart murmur, Mitral regurgitation, Lateral ventricle dilatation, Ventriculomegaly	OMIM:615873
Rhombencephalosynapsis	Ventriculomegaly, Septo-optic dysplasia, Hydrocephalus, Ataxia	ORPHA:59315
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypertonic dehydration	OMIM:304800
Hydrocephaly-Low Insertion Umbilicus Syndrome	Tetralogy of Fallot, Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary v...	ORPHA:2184
Bartter Syndrome, Type 3	Hypotension, Dehydration	OMIM:607364
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Ventriculomegaly, Polymicrogyria, Occipital meningocele, Hypoplasia of the corpus callosum, Hydro...	OMIM:616546
Wiskott-Aldrich Syndrome	Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema...	ORPHA:906
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Polymicrogyria, Cerebral calcification, Abnormal basal ganglia morphology, Agenes...	ORPHA:157
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Osteopetrosis, Autosomal Recessive 5	Diffuse white matter abnormalities, Ventriculomegaly, Cerebral atrophy, Ascites, Microcephaly, Li...	OMIM:259720
Menkes Disease	Gastrointestinal hemorrhage, Spasticity, Spontaneous hematomas, Chorea, Arterial stenosis, Venous...	ORPHA:565
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Pulmonary embolism, Somatic sensory dysfunction, Angioedema, Congestive h...	ORPHA:3260
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Polyhydramnios, Persistent left superior vena cava, Transposition of the great arteries, Hydrocep...	OMIM:314390
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Ataxia	ORPHA:2318
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Thanatophoric Dysplasia, Type I	Polyhydramnios, Hydrocephalus, Temporal lobe dysplasia	OMIM:187600
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus	OMIM:614195
Temple Syndrome	Hydrocephalus	ORPHA:254516
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Acute Liver Failure	Pain insensitivity, Gastrointestinal hemorrhage, Hypotension, Abnormal bleeding, Bruising suscept...	ORPHA:90062
Stormorken Syndrome	Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Subarachnoid hemorrhage	OMIM:185070
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Hypoplasia of the corpus callosum, Pulmonary arterial hypertension, Hyd...	OMIM:616482
Infantile Nephropathic Cystinosis	Abnormal cerebral white matter morphology, Dehydration	ORPHA:411629
Cockayne Syndrome Type 3	Vascular calcification, Aortic root aneurysm, Premature coronary artery atherosclerosis, Subdural...	ORPHA:90324
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Focal polymicrogyria, Absent septum pellucidum, Agenesis of corpus callosum, Hy...	OMIM:612651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Type II lissencephaly, Encephalocele, Agenesis of corpus callosum, Microcephaly...	OMIM:613150
Mycophenolate Mofetil Embryopathy	Coarctation of aorta, Hydrops fetalis, Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Chorioreti...	OMIM:618733
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation	ORPHA:742
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Aplasia/Hypoplasia of the corpus callosum, Portal hypertension, Tremor, ...	ORPHA:1454
Tetrasomy 15Q26	Hydrocephalus, Hypoplastic aortic arch, Patent ductus arteriosus, Dandy-Walker malformation	OMIM:614846
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Polymicrogyria, Tricuspid regurgitation, Heart murmur, Mitral regurgitation...	OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)	Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia	OMIM:214110
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Hypoplasia of the corpus callosum, Coarctation of aorta, Hydrocephalus, Patent ...	OMIM:300514
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary embolism, Subcutaneous hemorrh...	ORPHA:394
Usher Syndrome	Cerebral cortical atrophy, Abnormality of retinal pigmentation	ORPHA:886
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Pseudotrisomy 13 Syndrome	Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Microcephaly, Coarctation of aorta, H...	OMIM:264480
Lowry-Maclean Syndrome	Aplasia/Hypoplasia of the corpus callosum, Hemiparesis, Microcephaly, Coarctation of aorta, Hydro...	ORPHA:2409
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Microcephaly, Hydrocephalus, Heart murmur, Intracranial hemorrhage, Pate...	ORPHA:163979
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr...	OMIM:619103
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Normal pressure hydrocephalus, Bradycardia, Polyhydramnios, Frequent fal...	OMIM:620351
Sturge-Weber Syndrome	Cerebral cortical atrophy, Pulmonary embolism, Abnormal cerebral vascular morphology, Cerebral ca...	ORPHA:3205
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Myelomeningocele, Hydroce...	OMIM:613686
Netherton Syndrome	Hypernatremic dehydration, Angioedema	OMIM:256500
Joubert Syndrome 2	Abnormal corpus callosum morphology, Enlarged fossa interpeduncularis, Encephalocele, Oculomotor ...	OMIM:608091
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Absent septum pellucidum, Histiocytoid cardiomyopathy, Agenesis o...	OMIM:309801
Monosomy 18Q	Aortic valve stenosis, Diffuse white matter abnormalities, Congestive heart failure, Mitral regur...	ORPHA:1600
Hereditary Cryohydrocytosis With Reduced Stomatin	Spastic paraplegia, Hypoglycorrhachia, Intracerebral periventricular calcifications, Microcephaly...	ORPHA:168577
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Polyhydramnios, Hypovolemia	ORPHA:223
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypertension, Myocardial infarction, Dehydration	ORPHA:90038
Axial Mesodermal Dysplasia Spectrum	Cerebral cortical atrophy, Oligohydramnios, Hydrocephalus	ORPHA:1834
Oculocerebrorenal Syndrome Of Lowe	Ventriculomegaly, Clonus, Joint swelling, Dehydration	ORPHA:534
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Dilated cardiomyopathy, Mitral regurgitation, Hypoplasia of the corpus callosum...	ORPHA:261250
Trisomy 17P	Aortic valve stenosis, Microcephaly, Hydrocephalus, Hypertonia, Patent ductus arteriosus	ORPHA:261290
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Pallidal degeneration, Retinal fle...	ORPHA:157850
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Spasticity, Microcephaly, Hydrocephalus, Ataxia, Arteriosclerosis	ORPHA:220295
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of t...	OMIM:236670
Cole-Carpenter Syndrome 2	Oligohydramnios, Hydrocephalus	OMIM:616294
Bresek Syndrome	Microcephaly, Hydrocephalus	ORPHA:85284
Fg Syndrome Type 1	Ventriculomegaly, Broad-based gait, Aplasia/Hypoplasia of the corpus callosum, Coarctation of aor...	ORPHA:93932
Lhermitte-Duclos Disease	Polymicrogyria, Hydrocephalus, Ataxia	ORPHA:65285
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:217090
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Marfanoid-Progeroid-Lipodystrophy Syndrome	Aortic root aneurysm, Bruising susceptibility, Oligohydramnios, Hydrocephalus, Hypertension, Late...	OMIM:616914
Absent Radius-Anogenital Anomalies Syndrome	Oligohydramnios, Hydrocephalus	ORPHA:3016
Primary Ciliary Dyskinesia	Ventriculomegaly, Abnormal inferior vena cava morphology, Persistent left superior vena cava, Tra...	ORPHA:244
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Microcephaly, Spasticity, Hypoplasia of the corpus callosum	OMIM:618569
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Paternal Uniparental Disomy Of Chromosome 6	Oligohydramnios, Patent ductus arteriosus, Dehydration	ORPHA:96191
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Microcephaly, Hydrops fetalis, Encephalocele	ORPHA:1865
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Spasticity, Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Right bundle bran...	OMIM:618590
Werner Syndrome	White forelock, Abnormality of retinal pigmentation, Premature graying of hair	ORPHA:902
Distal Renal Tubular Acidosis	Paralysis, Dehydration	ORPHA:18
Temple Syndrome	Hydrocephalus	OMIM:616222
Pearson Marrow-Pancreas Syndrome	Hydrops fetalis, Dehydration	OMIM:557000
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:192
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage, Hydrocephalus	ORPHA:91350
3C Syndrome	Aortic valve stenosis, Ventriculomegaly, Tetralogy of Fallot, Hydrocephalus, Dandy-Walker malform...	ORPHA:7
Gracile Bone Dysplasia	Ascites, Hydrocephalus	OMIM:602361
Iniencephaly	Lissencephaly, Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, P...	ORPHA:63259
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Basal Cell Nevus Syndrome 2	Calcification of falx cerebri, Hydrocephalus	OMIM:620343
Apert Syndrome	Ventriculomegaly, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Hypertension	ORPHA:87
Cohen Syndrome	Chorioretinal dystrophy, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of skin ...	ORPHA:193
Chromosome 17P13.1 Deletion Syndrome	Oligohydramnios, Ankle clonus, Diffuse cerebral atrophy, Microcephaly, Hydrocephalus, Spina bifida	OMIM:613776
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Pigmentary retinopathy, Vitiligo, Perifoveal ring of hyperautofluorescence	OMIM:240300
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,...	OMIM:301043
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Hemiplegia, Subarachnoid hemorrhage, Cerebral vasculitis	OMIM:243700
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:96180
Juvenile Nephropathic Cystinosis	Dehydration, Hypovolemia	ORPHA:411634
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Cardiofaciocutaneous Syndrome 1	Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Hypertrophic cardiomyopathy...	OMIM:115150
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:220110
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Hypertonia, Ataxia	ORPHA:2720
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Abnormal corpus callosum morphology, Spasticity, Broad-based gait, Impaire...	ORPHA:261537
Kabuki Syndrome 1	Hydrocephalus, Microcephaly, Coarctation of aorta, Lateral ventricle dilatation	OMIM:147920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Spasticity, Broad-based gait, Hypoplastic anterior commissure, Lateral ven...	ORPHA:261552
Bartter Syndrome, Type 1, Antenatal	Polyhydramnios, Low-to-normal blood pressure, Paresthesia, Dehydration	OMIM:601678
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Bartter Syndrome Type 4	Polyhydramnios, Clumsiness, Dehydration	ORPHA:89938
Neurooculorenal Syndrome	Ventriculomegaly, Polymicrogyria, Tetralogy of Fallot with pulmonary stenosis, Agenesis of corpus...	OMIM:620305
Fraser Syndrome 3	Ascites, Oligohydramnios, Hydrocephalus, Nonimmune hydrops fetalis	OMIM:617667
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Microcephaly, Subdural hemorrhage, Hypertonia, Cavum septum pellucidum	OMIM:619714
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Conot...	ORPHA:2306
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les...	ORPHA:363618
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Dehydration, Edema, Bradycardia	ORPHA:79404
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida, Waddling gait	ORPHA:2839
Aicardi Syndrome	Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ...	ORPHA:50
Retinoblastoma	Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinoblastoma, He...	ORPHA:790
Short-Rib Thoracic Dysplasia 12	Ascites, Hydrocephalus, Polyhydramnios, Holoprosencephaly, Anencephaly, Patent ductus arteriosus,...	OMIM:269860
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Abnormal optic nerve morphology, Retinopathy, Abnormality of retinal pigmentation,...	ORPHA:2526
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Pulmonary lymphangiomyomatosis, Hy...	ORPHA:538
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Rabin-Pappas Syndrome	Microcephaly, Hypoplasia of the corpus callosum, Hydrocephalus, Retinal telangiectasia	OMIM:620155
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Dilation of Virchow-Robin spaces, Hydrocephalus	OMIM:619951
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Cerebral cortical atrophy, Athetosis, Hydrocephalus	OMIM:239300
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Patent ductus ...	ORPHA:250989
Achondroplasia	Hydrocephalus, Wide anterior fontanel	ORPHA:15
Bartter Syndrome, Type 2, Antenatal	Polyhydramnios, Low-to-normal blood pressure, Paresthesia, Dehydration	OMIM:241200
Khan-Khan-Katsanis Syndrome	Ventriculomegaly, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Microc...	OMIM:618460
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spastic paraplegia, Broad-based gait, Ventriculomegaly, Limb ataxia, Calcification of the aorta, ...	ORPHA:2072
Thakker-Donnai Syndrome	Tetralogy of Fallot, Communicating hydrocephalus, Transposition of the great arteries, Agenesis o...	ORPHA:1780
Vipoma	Ascites, Dehydration	ORPHA:97282
Hyperparathyroidism, Transient Neonatal	Ventriculomegaly, Stroke, Polyhydramnios, Communicating hydrocephalus, Patent ductus arteriosus	OMIM:618188
Microsporidiosis	Myocarditis, Dehydration	ORPHA:2552
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Dilation of Virchow-Robin spaces, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Aqued...	OMIM:619512
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, ...	ORPHA:457284
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cerebral cortical atrophy, Pigmentary retinopathy, Optic disc pallor, Brushfield spots, Patent du...	OMIM:214100
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Hypertension, Hydrocephalus, Agenesis of corpus callosum	OMIM:123790
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Abnormality of peripheral nerve conduction, Absent brainst...	ORPHA:90321
6Q Terminal Deletion Syndrome	Abnormal cerebral cortex morphology, Polymicrogyria, Gait ataxia, Hypoplasia of the corpus callos...	ORPHA:75857
Witteveen-Kolk Syndrome	Poor motor coordination, Ventriculomegaly, Hypoplasia of the corpus callosum, Dysplastic corpus c...	OMIM:613406
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Choroid plexus cyst, Hydrocephalus	OMIM:617866
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cerebral atrophy, Communicating hydrocephalus, Cardiomyopathy, Ataxia	OMIM:616084
Congenital Syphilis	Petechiae, Hydrocephalus, Myocarditis, Hydrops fetalis, Purpura, CSF pleocytosis	ORPHA:499009
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Abnormal motor nerve conduction velocity, Abnormality of retinal pigmentation...	ORPHA:466768
15Q Overgrowth Syndrome	Tricuspid regurgitation, Mitral regurgitation, Agenesis of corpus callosum, Pulmonary arterial hy...	ORPHA:314585
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Holoprosencephaly-Postaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Hydrocephalus, Polyhydram...	ORPHA:2166
Cystinosis, Nephropathic	Cerebral atrophy, Cerebral calcification, Dehydration	OMIM:219800
Osteopetrosis, Autosomal Recessive 2	Facial paralysis, Hydrocephalus	OMIM:259710
Fanconi Anemia, Complementation Group R	Microcephaly, Hydrocephalus	OMIM:617244
Chédiak-Higashi Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Cerebellar atrophy, Spotty hyperpigmentation...	ORPHA:167
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Functioning Gonadotropic Adenoma	Ascites, Hydrocephalus	ORPHA:91348
Lenz-Majewski Hyperostotic Dwarfism	Cerebral cortical atrophy, Ventriculomegaly, Prominent scalp veins, Agenesis of corpus callosum, ...	OMIM:151050
Achondroplasia	Polyhydramnios, Hydrocephalus, Megalencephaly	OMIM:100800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Patent ductus arteriosus, Brain atrophy, Abnormality of retinal pigmentation	ORPHA:505248
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cerebral cortical atrophy, Hypotension, Tremor, Abnormality of extrapyramidal motor function, Mic...	OMIM:277400
Multiple Endocrine Neoplasia Type 1	Shortened QT interval, Hematemesis, Melena, Hypertension, Dehydration	ORPHA:652
Bardet-Biedl Syndrome 1	Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Retinal degeneration, ...	OMIM:209900
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Broad-based gait, Progressive spastic quadriplegia, Isometric tremor, Clonus, Tortico...	OMIM:619475
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Spasticity, Hydrocephalus, Wide anterior fontanel	OMIM:305450
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus, Venous insufficiency	ORPHA:2969
Meckel Syndrome, Type 1	Cerebral hypoplasia, Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Oligohy...	OMIM:249000
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy...	OMIM:618820
Marshall-Smith Syndrome	Ventriculomegaly, Cerebral atrophy, Absent septum pellucidum, Hypoplasia of the corpus callosum, ...	OMIM:602535
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Cerebral cortical atrophy, Distal sensory impairment, Telangiectasia of the s...	OMIM:616007
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,...	OMIM:610828
Proximal Renal Tubular Acidosis	Dehydration, Hypovolemia	ORPHA:47159
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Global brain atrophy, Neurodegeneration, Retinal degenerat...	OMIM:234200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic root aneurysm, Bruising susceptibility, Oligohydramnios, Stroke, Hydrocephalus, Torticolli...	ORPHA:536467
Cardiofaciocutaneous Syndrome	Cerebral cortical atrophy, Lymphedema, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:1340
Heterotaxy, Visceral, 1, X-Linked	Total anomalous pulmonary venous return, Bilateral superior vena cava, Myelomeningocele, Dextrotr...	OMIM:306955
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Carotid artery occlusion, Shuffling gait, Aortic regurgitation, Atheroscle...	ORPHA:740
Mend Syndrome	Aortic valve stenosis, Hypoplasia of the corpus callosum, Limb hypertonia, Hydrocephalus, Wide an...	ORPHA:401973
Aymé-Gripp Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum, Hydrocephalus, Pe...	ORPHA:1272
Osteopathia Striata With Cranial Sclerosis	Oligohydramnios, Hydrocephalus, Polyhydramnios, Spina bifida occulta, Partial agenesis of the cor...	OMIM:300373
Mucopolysaccharidosis Type 3	Vocal cord paresis, Spasticity, Atrioventricular block, Ventriculomegaly, Reduced left ventricula...	ORPHA:581
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Hurler Syndrome	Spastic paraparesis, Cardiomyopathy, Cerebral palsy, Angina pectoris, Abnormal pyramidal sign, Hy...	ORPHA:93473
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Inability to walk, Microcephaly, Colpocephaly, Ataxia	OMIM:620083
Apert Syndrome	Ventriculomegaly, Absent septum pellucidum, Agenesis of corpus callosum, Overriding aorta, Hydroc...	OMIM:101200
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypoplasia of the corpus callosum, Colpocephaly, Oculomotor apraxia, Clonus, Cerebral white matte...	ORPHA:477993
Distal Triplication 15Q	Hydrocephalus, Hypoplastic aortic arch, Patent ductus arteriosus, Dandy-Walker malformation	ORPHA:314588
Mucopolysaccharidosis, Type Vii	Hydrops fetalis, Hydrocephalus, Cardiomyopathy	OMIM:253220
Orofaciodigital Syndrome I	Abnormal cortical gyration, Cerebral atrophy, Myelomeningocele, Agenesis of corpus callosum, Micr...	OMIM:311200
Holoprosencephaly	Spasticity, Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Ch...	ORPHA:2162
Osteopetrosis, Autosomal Recessive 1	Facial paralysis, Hydrocephalus	OMIM:259700
Coccidioidomycosis	Vasculitis, Increased CSF protein concentration, Vasospasm, Hypoglycorrhachia, Exudative pleural ...	ORPHA:228123
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebral cortical atrophy, Ventriculomegaly, Gait ataxia, Thick corpus callosum, Communicating hy...	OMIM:617011
Vacterl With Hydrocephalus	Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Stromme Syndrome	Microcephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:243605
Sacral Defect With Anterior Meningocele	Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Wide anterior fontanel	OMIM:207410
Pentalogy Of Cantrell	Tetralogy of Fallot, Hydrocephalus, Anencephaly, Encephalocele	ORPHA:1335
Zttk Syndrome	Aortic regurgitation, Spasticity, Ventriculomegaly, Periventricular leukomalacia, Hypoplasia of t...	OMIM:617140
Mucopolysaccharidosis Type 1	Congestive heart failure, Hypertrophic cardiomyopathy, Paresthesia, Hemiplegia/hemiparesis, Hydro...	ORPHA:579
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Hypotension, Dehydration, Hypovolemia	ORPHA:90794
Thoracoabdominal Syndrome	Hydrocephalus, Transposition of the great arteries, Patent ductus arteriosus, Anencephaly	OMIM:313850
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Ventriculomegaly, Dysmetria, Aortic aneurysm, Hydrocephalus, Unsteady gait...	ORPHA:96121
Fanconi Anemia, Complementation Group D2	Bruising susceptibility, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcep...	OMIM:227646
Genitopalatocardiac Syndrome	Microcephaly, Hydrocephalus	ORPHA:2075
Cockayne Syndrome	Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Cerebellar atrophy, Cereb...	ORPHA:191
Shprintzen-Goldberg Craniosynostosis Syndrome	Microcephaly, Aortic aneurysm, Hydrocephalus, Wide anterior fontanel	OMIM:182212
Cystic Fibrosis	Dehydration	OMIM:219700
H Syndrome	Upper eyelid edema, Facial telangiectasia, Abnormal cardiovascular system physiology, Hydrocephal...	ORPHA:168569
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Lateral Meningocele Syndrome	Hydrocephalus, Aortic aneurysm, Patent ductus arteriosus, Meningocele	OMIM:130720
Holoprosencephaly 9	Abnormal cortical gyration, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Holoprosenceph...	OMIM:610829
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal vitreous humor morpholo...	ORPHA:2556
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Encephalocele	OMIM:224400
Mucopolysaccharidosis Type 2	Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormality of retinal pigmentat...	ORPHA:580
Dextrocardia	T-wave inversion, Abnormal EKG, Hydrocephalus, Congenital malformation of the great arteries	ORPHA:1666
Abetalipoproteinemia	Abnormality of retinal pigmentation, Hypopigmentation of the fundus, Rod-cone dystrophy	ORPHA:14
Melas	Optic atrophy, Pigmentary retinopathy, Cerebral cortical atrophy, Vitiligo, Brain atrophy	ORPHA:550
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Gaucher Disease	Gingival bleeding, Ventriculomegaly, Abnormal bleeding, Cherry red spot of the macula, Tremor, Ab...	ORPHA:355
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Cerebellar atrophy, R...	OMIM:216400
Meckel Syndrome	Aplasia/Hypoplasia of the corpus callosum, Oligohydramnios, Encephalocele, Microcephaly, Hydrocep...	ORPHA:564
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Left ventricular noncompaction cardiomyopathy, Tremor, Dysplastic corpus callosum...	OMIM:300967
Primary Fanconi Renotubular Syndrome	Dehydration	ORPHA:3337
Laurin-Sandrow Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2378
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Diffuse white matter abnormalities, Cerebral cortical atrophy, Ventriculomegaly, Difficulty walki...	ORPHA:457359
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Cryptococcosis	Hydrocephalus, Cerebral edema, Pleural effusion, Cerebral cortical atrophy	ORPHA:1546
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:255210
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Abnormality of retinal pigmentation	ORPHA:175
Smith-Lemli-Opitz Syndrome	Hypertrophic cardiomyopathy, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, ...	OMIM:270400
Cerebrooculonasal Syndrome	Ventriculomegaly, Encephalocele, Hypoplasia of the corpus callosum, Hydrocephalus, Dandy-Walker m...	OMIM:605627
Trisomy 8P	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Agenesis of corpus callosum, Microceph...	ORPHA:264450
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension, Hydrocephalus	ORPHA:1555
Nijmegen Breakage Syndrome	Neurodegeneration, Progressive vitiligo, Cafe-au-lait spot, Retinal pigment epithelial mottling	OMIM:251260
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Yunis-Varon Syndrome	Cardiomyopathy, Pachygyria, Tetralogy of Fallot, Increased nuchal translucency, Renal artery sten...	ORPHA:3472
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Atrophy/Degeneration involving the spinal cord, Retinal pigment epithelial mottling	OMIM:607459
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral regurgita...	OMIM:253200
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Cone/cone-rod dystro...	ORPHA:404454
Alobar Holoprosencephaly	Spasticity, Inability to walk, Abnormal central motor function, Agenesis of corpus callosum, Micr...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Spasticity, Inability to walk, Abnormal central motor function, Agenesis of corpus callosum, Micr...	ORPHA:93926
Lobar Holoprosencephaly	Spasticity, Inability to walk, Abnormal central motor function, Agenesis of corpus callosum, Micr...	ORPHA:93924
Semilobar Holoprosencephaly	Spasticity, Inability to walk, Abnormal central motor function, Agenesis of corpus callosum, Micr...	ORPHA:220386
Hurler Syndrome	Aortic regurgitation, Hydrocephalus, Mitral regurgitation, Cardiomyopathy	OMIM:607014
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Dubowitz Syndrome	Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Spina bifida occulta, Wid...	ORPHA:235
Viss Syndrome	Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Bruising susceptibility, ...	OMIM:619472
Costello Syndrome	Ventriculomegaly, Cerebral atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Hydrocephalus, Lymph...	OMIM:218040
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Abnormality of retinal pigmentation, Retinopathy, Papilledema, Abnormal foveal mor...	ORPHA:217085
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, Bruising susceptibility, Patent ductus arteriosus	OMIM:618162
22Q11.2 Deletion Syndrome	Hypertensive crisis, Gastrointestinal hemorrhage, Abnormal aortic arch morphology, Tetralogy of F...	ORPHA:567
Gaucher Disease, Type Iiic	Hydrocephalus, Calcification of the aorta, Mitral stenosis	OMIM:231005
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Abnormality of retinal pigmentation, Retinopathy, Papilledema, Abnormal foveal mor...	ORPHA:217093
Chilton-Okur-Chung Neurodevelopmental Syndrome	Epistaxis, Oligohydramnios, Communicating hydrocephalus, Agenesis of corpus callosum, Microcephal...	OMIM:619841
Fanconi Anemia	Ventriculomegaly, Arteriovenous malformation, Hypertrophic cardiomyopathy, Tetralogy of Fallot, O...	ORPHA:84
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Pseudobulbar paralysis, Tricuspid regurgitation, Speech apraxia, Hypoplasia of the corpus callosu...	ORPHA:466791
Orofaciodigital Syndrome Ii	Porencephalic cyst, Hydrocephalus	OMIM:252100
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Neurofibromatosis Type 1	Inguinal freckling, Hypopigmented skin patches, Chorioretinal coloboma, Melanocytic nevus, Genera...	ORPHA:636
Alstrom Syndrome	Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy	OMIM:203800
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Spastic paraplegia, Cerebral cortical atrophy, Mitral regurgitation, Clumsi...	ORPHA:309282
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Aortic root aneurysm, Hydrocephalus	OMIM:245600
Loeys-Dietz Syndrome 2	Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor...	OMIM:610168
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Patent ductus arteriosus	OMIM:104350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Spasticity, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the co...	OMIM:253280
Monosomy 9Q22.3	Ventriculomegaly, Calcification of falx cerebri, Hydrocephalus	ORPHA:77301
Jacobsen Syndrome	Microcephaly, Spasticity, Holoprosencephaly, Hydrocephalus	OMIM:147791
Nelson Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:199244
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Choroidal neovascularization, Macular edema, Abnormality of retinal pigmentat...	ORPHA:91500
Fontaine Progeroid Syndrome	Tricuspid regurgitation, Oligohydramnios, Hypoplasia of the corpus callosum, Microcephaly, Aortic...	OMIM:612289
Fetal Akinesia Deformation Sequence 1	Increased nuchal translucency, Absent septum pellucidum, Nonimmune hydrops fetalis, Hydrocephalus...	OMIM:208150
Craniopharyngioma	Hydrocephalus, Cerebral calcification, Cerebral ischemia, Myocardial infarction	ORPHA:54595
Marden-Walker Syndrome	Hydrocephalus, Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:2461
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Cerebral atrophy, Dec...	OMIM:133540
Loeys-Dietz Syndrome 3	Aortic regurgitation, Aortic dissection, Bruising susceptibility, Arterial tortuosity, Tortuous c...	OMIM:613795
Raine Syndrome	Microcephaly, Cerebral calcification, Hydrocephalus	OMIM:259775
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Abnormal corpus callosum morphology, Vascular ring, Secondary microcephaly...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Abnormal corpus callosum morphology, Vascular ring, Secondary microcephaly...	ORPHA:353277
Full Nf2-Related Schwannomatosis	Hyperesthesia, Myelopathy, Somatic sensory dysfunction, Hemiparesis, Hydrocephalus, Unsteady gait	ORPHA:637
Kabuki Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Microcephaly, Coarctation of aorta, Hydrocephalus	ORPHA:2322
Gorlin Syndrome	Cerebral calcification, Calcification of falx cerebri, Hydrocephalus	ORPHA:377
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Microcephaly, Hydrocephalus, Palpebral edema, Patent ductus arteriosus	ORPHA:261337
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Shprintzen-Goldberg Syndrome	Microcephaly, Communicating hydrocephalus, Mitral regurgitation, Ventriculomegaly	ORPHA:2462
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Acrofacial Dysostosis 1, Nager Type	Polymicrogyria, Tetralogy of Fallot, Microcephaly, Hydrocephalus, Aqueductal stenosis, Patent duc...	OMIM:154400
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Absent septum pellucidum, Agenesis of corpus callosum, Polyhydramnios...	OMIM:236680
Basal Cell Nevus Syndrome 1	Calcification of falx cerebri, Hydrocephalus, Spina bifida	OMIM:109400
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Otopalatodigital Syndrome Type 2	Myelomeningocele, Hydrocephalus, Encephalocele	ORPHA:90652
Mend Syndrome	Aortic valve stenosis, Dandy-Walker malformation, Hydrocephalus, Hypertonia	OMIM:300960
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:2658
Knobloch Syndrome	Hydrocephalus, Occipital encephalocele, Patent ductus arteriosus	ORPHA:1571
Acrofacial Dysostosis, Cincinnati Type	Pulmonary artery aneurysm, Ventriculomegaly, Abnormality of coordination, Myoclonus, Pulmonary ar...	OMIM:616462
Campomelic Dysplasia	Spinal dysraphism, Hydrocephalus, Spina bifida, Polyhydramnios, Wide anterior fontanel	OMIM:114290
Genitopatellar Syndrome	Pachygyria, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Polyhydramnios, Thin corpus ...	OMIM:606170
Peters Plus Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Microceph...	ORPHA:709
Autosomal Recessive Malignant Osteopetrosis	Bruising susceptibility, Tremor, Pulmonary artery stenosis, Pulmonary arterial hypertension, Hydr...	ORPHA:667
White-Kernohan Syndrome	Dysplastic corpus callosum	OMIM:619426
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypertension, Hydrocephalus, Wide anterior fontanel	ORPHA:95699
Wiedemann-Rautenstrauch Syndrome	Spasticity, Polymicrogyria, Abnormal corpus striatum morphology, Prominent scalp veins, Action tr...	ORPHA:3455
Peters-Plus Syndrome	Wide anterior fontanel, Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Microcep...	OMIM:261540
Pmm2-Cdg	Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Abnormality of coordination, Angina pectoris, ...	ORPHA:79318
Neurofibromatosis, Type I	Renal artery stenosis, Hydrocephalus, Spina bifida, Aqueductal stenosis, Hypertension	OMIM:162200
Atypical Werner Syndrome	Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Retinal degenerat...	ORPHA:79474
Hajdu-Cheney Syndrome	Aortic valve stenosis, Hydrocephalus, Patent ductus arteriosus, Mitral stenosis	ORPHA:955
Tuberous Sclerosis Complex	Cortical tubers, Pulmonary lymphangiomyomatosis, Aortic aneurysm, Subependymal nodules, Internal ...	ORPHA:805
Wolf-Hirschhorn Syndrome	Ventriculomegaly, Periventricular cysts, Absent septum pellucidum, Agenesis of corpus callosum, M...	OMIM:194190
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Agenesis of corpus callosum, Hydrocephalus, Hypertonia, Truncal ataxia, In...	OMIM:264090
Proteus Syndrome	Retinal nonattachment, Irregular hyperpigmentation, Chorioretinal coloboma, Central heterochromia...	ORPHA:744
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Loeys-Dietz Syndrome 1	Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor...	OMIM:609192
Hardikar Syndrome	Pigmentary retinopathy, Patent ductus arteriosus	OMIM:301068
Baller-Gerold Syndrome	Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Spina bifida occulta, Wide anterior f...	OMIM:218600
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Lower limb dysmetria, Hypertrophic cardiomyopathy, Mitral regurgitation, Hypoplasia of the corpus...	ORPHA:363700
Tetrasomy 9P	Polymicrogyria, Juxtaductal coarctation of the aorta, Pulmonary arterial hypertension, Raynaud ph...	ORPHA:3310
Hajdu-Cheney Syndrome	Hydrocephalus, Patent ductus arteriosus	OMIM:102500
Limb Body Wall Complex	Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Spina bifida occulta, Anencephaly	ORPHA:2369
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Cardiomyopathy, Agenesis of corpus callosum, Arrhythmia,...	OMIM:312870
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Orthostatic hypotension	OMIM:606721
Focal Dermal Hypoplasia	Myelomeningocele, Agenesis of corpus callosum, Telangiectasia, Microcephaly, Hydrocephalus, Spina...	OMIM:305600
Microphthalmia With Limb Anomalies	Hydrocephalus, Venous insufficiency	ORPHA:1106
Fraser Syndrome 1	Abnormal cortical gyration, Myelomeningocele, Encephalocele, Microcephaly, Hydrocephalus	OMIM:219000
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Gait disturbance, Hydrocephalus	ORPHA:3042
Pseudoaminopterin Syndrome	Hydrocephalus	ORPHA:221120
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Microcephaly, Hydrocephalus	OMIM:619321
Coffin-Siris Syndrome 12	Hippocampal atrophy, Tetralogy of Fallot, Microcephaly, Heart murmur, Noncommunicating hydrocephalus	OMIM:619325
Otopalatodigital Syndrome, Type Ii	Wide anterior fontanel, Dilatation of the sinus of Valsalva, Hydrocephalus, Spina bifida	OMIM:304120
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Roberts-Sc Phocomelia Syndrome	Microcephaly, Hydrocephalus, Frontal encephalocele, Polyhydramnios, Patent ductus arteriosus	OMIM:268300
Townes-Brocks Syndrome 1	Tetralogy of Fallot, Microcephaly, Holoprosencephaly, Hydrocephalus	OMIM:107480
Craniofacial Microsomia 1	Occipital encephalocele, Tetralogy of Fallot, Right aortic arch, Agenesis of corpus callosum, Coa...	OMIM:164210
Exstrophy-Epispadias Complex	Microcephaly, Hydrocephalus, Spina bifida	ORPHA:322

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 Msi1

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 Msi1.

No publications found that use IMPC mice or data for Msi1.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Msi1^{tm39384(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Msi1^{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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