Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Lambert Syndrome |
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Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Branchiootic Syndrome 1 |
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Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
Branchiogenic-Deafness Syndrome |
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Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... |
OMIM:609166 |
Verheij Syndrome |
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Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Coloboma, Int... |
OMIM:615583 |
X-Linked Mandibulofacial Dysostosis |
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Low-set, posteriorly rotated ears, Short stature, Conductive hearing impairment, Sensorineural he... |
ORPHA:1131 |
Branchiogenic Deafness Syndrome |
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Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... |
ORPHA:50815 |
Diethylstilbestrol Syndrome |
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Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Fryns Microphthalmia Syndrome |
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Neural tube defect, Macrotia |
OMIM:600776 |
Branchiootic Syndrome 3 |
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Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
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Branchial cyst, Severe postnatal growth retardation, Sensorineural hearing impairment, Protruding... |
ORPHA:435938 |
Holoprosencephaly |
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Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Extern... |
ORPHA:2162 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Ventricular septal defect, Anterior encephalocele, Coloboma, Holoprosencephaly, Low-set ears |
OMIM:601357 |
Branchiootorenal Syndrome 1 |
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Branchial cyst, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, H... |
OMIM:113650 |
Bor Syndrome |
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Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Low-set, posteriorly rotated ears, Ventricular septal defect, Short stature, Situs... |
ORPHA:1908 |
Branchiootic Syndrome |
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Branchial fistula, Sensorineural hearing impairment, Atresia of the external auditory canal, Cond... |
ORPHA:52429 |
Joubert Syndrome 15 |
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Coloboma, Exencephaly |
OMIM:614464 |
Distal 22Q11.2 Microduplication Syndrome |
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Branchial fistula, Ventricular septal defect, Hydrocephalus, Optic disc coloboma, Low posterior h... |
ORPHA:261337 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Conductive hearing impairment, Increased nuchal... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Bicuspid aortic valve, Ventricular septal defect, Conductive hearing impairment, Increased nuchal... |
ORPHA:352665 |
Oligomeganephronia |
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Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Hearing impairment |
ORPHA:2260 |
Distal 22Q11.2 Microdeletion Syndrome |
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Branchial fistula, Ventricular septal defect, Short stature, Sensorineural hearing impairment, Ab... |
ORPHA:261330 |
Alg3-Cdg |
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Neural tube defect, Abnormal pinna morphology, Hearing impairment, Cardiomyopathy |
ORPHA:79321 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect |
OMIM:119580 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Branchial cyst, Natal tooth, Mixed hearing impairment, Short stature, Conductive hearing impairme... |
OMIM:620186 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Short stature, Sensorineural hearing impairment, Spinal dysraphism, Hypoplastic left heart, Aorti... |
OMIM:617660 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Isolated Posterior Meningocele |
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Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... |
ORPHA:268810 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly |
OMIM:207770 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Prominent antihelix, Branchial anomaly, Posteriorly rotated ears, Hearing impairment |
ORPHA:466950 |
Treacher-Collins Syndrome |
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Encephalocele, Branchial fistula, Microtia, Conductive hearing impairment, Narrow internal audito... |
ORPHA:861 |
8Q24.3 Microdeletion Syndrome |
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Branchial cyst, Infancy onset short-trunk short stature, Ventricular septal defect, Posteriorly r... |
ORPHA:508488 |
Branchiooculofacial Syndrome |
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Posteriorly rotated ears, Short neck, Postnatal growth retardation, Sensorineural hearing impairm... |
OMIM:113620 |
Iniencephaly |
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Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Sensorineural hearing impairme... |
OMIM:164210 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Witteveen-Kolk Syndrome |
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Branchial fistula, Short stature, Uplifted earlobe, Sensorineural hearing impairment, Cupped ear,... |
OMIM:613406 |
Von Hippel-Lindau Syndrome |
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Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
Renal Cysts And Diabetes Syndrome |
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Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens |
OMIM:137920 |
Alobar Holoprosencephaly |
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Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... |
ORPHA:220386 |
Schinzel-Giedion Syndrome |
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Delayed eruption of teeth, Abnormality of the stapes, Short neck, Abnormal heart morphology, Neur... |
ORPHA:798 |
Aprosencephaly And Cerebellar Dysgenesis |
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Aprosencephaly |
OMIM:601374 |
Von Hippel-Lindau Disease |
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Papillary cystadenoma of the epididymis, Epididymal cyst |
ORPHA:892 |
Floating-Harbor Syndrome |
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Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele |
OMIM:136140 |
Floating-Harbor Syndrome |
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Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele |
ORPHA:2044 |