Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
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Spina bifida, Anencephaly |
OMIM:206500 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Acalvaria |
|
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Lambert Syndrome |
|
Branchial anomaly |
ORPHA:1296 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Spina bifida, Anencephaly |
ORPHA:2476 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida |
OMIM:211960 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Spina bifida, Cervical myelopathy |
OMIM:207950 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly |
ORPHA:63862 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Congenital muscular torticollis, Webbed neck, Spina bifida, Low posterior hairline |
ORPHA:2345 |
Caudal Duplication |
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Myelomeningocele, Spina bifida |
ORPHA:1756 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
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Short neck, Cervical spina bifida, Low posterior hairline |
OMIM:600122 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Amish Lethal Microcephaly |
|
Spina bifida, Lissencephaly |
ORPHA:99742 |
X-Linked Mandibulofacial Dysostosis |
|
Webbed neck, Branchial anomaly |
ORPHA:1131 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Abnormality of dental eruption, Spina bifida |
ORPHA:1327 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Thickened nuchal skin fold, Spina bifida occulta, Spina bifida |
ORPHA:2437 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Lissencephaly... |
ORPHA:63259 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Posterior Meningocele |
|
Occipital meningocele, Hydrocephalus, Neural tube defect, Limitation of neck motion, Meningocele,... |
ORPHA:268810 |
Waardenburg Syndrome Type 1 |
|
Spina bifida, Meningocele |
ORPHA:894 |
Fountain Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:3219 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Neu-Laxova Syndrome 2 |
|
Short neck, Spina bifida, Lissencephaly |
OMIM:616038 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Hydranencephaly, Meningocele, Webbed neck, Spina bifida |
ORPHA:1393 |
Holoprosencephaly |
|
Hydrocephalus, Holoprosencephaly, Short neck, Spinal dysraphism, Branchial anomaly, Abnormality o... |
ORPHA:2162 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cystic hygroma, Gray matter heterotopia, Increased nuchal translucency, Branchial anomaly |
ORPHA:453499 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Spina bifida, Hydranencephaly |
ORPHA:2839 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... |
ORPHA:2671 |
Oligomeganephronia |
|
Branchial cyst |
ORPHA:2260 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Trisomy 20P |
|
Short neck, Spina bifida, Low posterior hairline, Umbilical hernia |
ORPHA:261318 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Cystic hygroma, Gray matter heterotopia, Increased nuchal translucency, Branchial anomaly |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Cystic hygroma, Gray matter heterotopia, Increased nuchal translucency, Branchial anomaly |
ORPHA:352665 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Spina bifida, Aqueductal stenosis, Arrhinencephaly |
ORPHA:3412 |
Pagod Syndrome |
|
Abnormality of neuronal migration, Encephalocele, Spina bifida, Meningocele |
ORPHA:991 |
Mosaic Trisomy 9 |
|
Short neck, Cystic hygroma, Spina bifida, Webbed neck |
ORPHA:99776 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus, Webbed neck, Low posterior hairline, Branchial fistula |
ORPHA:261337 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula |
ORPHA:261330 |
Trisomy 18 |
|
Webbed neck, Spina bifida, Anencephaly, Holoprosencephaly |
ORPHA:3380 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele |
ORPHA:861 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Limb Body Wall Complex |
|
Myelomeningocele, Hydrocephalus, Short umbilical cord, Anencephaly, Spina bifida occulta, Encepha... |
ORPHA:2369 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Aicardi Syndrome |
|
Gray matter heterotopia, Pachygyria, Spina bifida, Polymicrogyria |
OMIM:304050 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Short neck, Hydranencephaly, Small placenta, Lissencephaly, Spina bifida, S... |
OMIM:256520 |
Focal Dermal Hypoplasia |
|
Spina bifida, Umbilical hernia |
ORPHA:2092 |
Basal Cell Nevus Syndrome |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Natal tooth |
OMIM:234100 |
Neurofibromatosis, Type I |
|
Hydrocephalus, Spina bifida, Aqueductal stenosis |
OMIM:162200 |
Jacobsen Syndrome |
|
Short neck, Pachygyria, Spina bifida, Webbed neck |
ORPHA:2308 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short neck, Spina bifida |
ORPHA:508498 |
22Q11.2 Deletion Syndrome |
|
Hydrocephalus, Short neck, Arrhinencephaly, Umbilical hernia, Meningocele, Spina bifida, Occipita... |
ORPHA:567 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Spina bifida |
OMIM:619480 |
Campomelic Dysplasia |
|
Spinal dysraphism, Hydrocephalus, Spina bifida |
OMIM:114290 |
Thrombocytopenia-Absent Radius Syndrome |
|
Spina bifida |
OMIM:274000 |
Branchiooculofacial Syndrome |
|
Short neck, Low posterior hairline, Branchial anomaly |
OMIM:113620 |
Fanconi Anemia |
|
Hydrocephalus, Spina bifida, Umbilical hernia |
ORPHA:84 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Spina bifida |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Spina bifida |
ORPHA:363958 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Bilateral polymicrogyria |
OMIM:613406 |
Rubinstein-Taybi Syndrome 1 |
|
Spina bifida, Low posterior hairline, Spina bifida occulta |
OMIM:180849 |
Split Cord Malformation |
|
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele |
ORPHA:573278 |
Vater/Vacterl Association |
|
Spina bifida, Occipital encephalocele, Patent urachus |
OMIM:192350 |
Craniofacial Microsomia |
|
Hydrocephalus, Occipital encephalocele, Branchial anomaly |
OMIM:164210 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Short neck, Spina bifida occulta |
ORPHA:508488 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Periventricular heterotopia, Delayed eruption of teeth, Polymicrogyria |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Periventricular heterotopia, Delayed eruption of teeth, Polymicrogyria |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth |
OMIM:235730 |