Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Type II lissencephaly, Neural tube defect |
OMIM:615041 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Spina Bifida-Hypospadias Syndrome |
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Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Myelopathy, Htlv-1-Associated |
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Myelopathy |
OMIM:159580 |
Frontal Encephalocele |
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Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
Acalvaria |
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Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Hemihyperplasia, Isolated |
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Myelomeningocele |
OMIM:235000 |
Subependymal Nodular Heterotopia |
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Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Nas... |
ORPHA:101030 |
Lambert Syndrome |
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Branchial anomaly |
ORPHA:1296 |
Neural Tube Defects, Susceptibility To |
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Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Anencephaly, Spina bifida |
ORPHA:2476 |
Wildervanck Syndrome |
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Low posterior hairline, Webbed neck, Meningocele, Short neck |
ORPHA:3456 |
Isolated Hemihyperplasia |
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Myelomeningocele |
ORPHA:2128 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida |
OMIM:211960 |
Chiari Malformation Type Ii |
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Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Gray matter heterotopia |
OMIM:207950 |
Craniorachischisis |
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Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
Branchiootic Syndrome 3 |
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Branchial cyst |
OMIM:608389 |
Branchiogenic-Deafness Syndrome |
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Branchial fistula, Branchial cyst |
OMIM:609166 |
Congenital Vertical Talus |
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Myelomeningocele |
ORPHA:178382 |
Nevus Comedonicus Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Schisis Association |
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Anencephaly, Encephalocele, Spina bifida |
ORPHA:63862 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Isolated Klippel-Feil Syndrome |
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Webbed neck, Congenital muscular torticollis, Low posterior hairline, Short neck, Spina bifida |
ORPHA:2345 |
Diaphanospondylodysostosis |
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Myelomeningocele, Short neck |
ORPHA:66637 |
Humero-Radial Synostosis |
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Meningocele |
ORPHA:3265 |
Caudal Duplication |
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Myelomeningocele, Spina bifida |
ORPHA:1756 |
Thoraco-Abdominal Enteric Duplication |
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Meningocele |
ORPHA:1759 |
Meckel Syndrome, Type 2 |
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Cystic hygroma, Meningocele, Anencephaly, Encephalocele |
OMIM:603194 |
Acropectorovertebral Dysplasia |
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Spina bifida |
ORPHA:957 |
Branchiootic Syndrome 1 |
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Branchial fistula |
OMIM:602588 |
Muscle-Eye-Brain Disease |
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Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Sirenomelia |
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Sirenomelia, Spina bifida |
ORPHA:3169 |
Meckel Syndrome, Type 4 |
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Hydrocephalus, Meningocele, Anencephaly, Encephalocele |
OMIM:611134 |
X-Linked Mandibulofacial Dysostosis |
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Webbed neck, Branchial anomaly |
ORPHA:1131 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
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Short neck, Spina bifida |
OMIM:620439 |
Aminopterin/Methotrexate Embryofetopathy |
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Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly |
ORPHA:1908 |
Branchiogenic Deafness Syndrome |
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Branchial fistula, Branchial cyst |
ORPHA:50815 |
Isolated Posterior Meningocele |
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Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocel... |
ORPHA:268810 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
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Branchial cyst |
ORPHA:435938 |
Verheij Syndrome |
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Short neck, Branchial cyst |
OMIM:615583 |
Anophthalmia Plus Syndrome |
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Spina bifida |
ORPHA:1104 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect |
OMIM:119580 |
Neurocutaneous Melanocytosis |
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Abnormality of neuronal migration, Meningocele |
ORPHA:2481 |
Enlarged Parietal Foramina |
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Myelomeningocele, Occipital encephalocele |
ORPHA:60015 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Abnormality of dental eruption, Spina bifida |
ORPHA:1327 |
Czeizel-Losonci Syndrome |
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Myelomeningocele, Hydrocephalus, Spina bifida, Thickened nuchal skin fold, Spina bifida occulta |
ORPHA:2437 |
Amish Lethal Microcephaly |
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Spina bifida, Lissencephaly |
ORPHA:99742 |
Branchiootic Syndrome |
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Branchial fistula |
ORPHA:52429 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
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Meningocele |
ORPHA:2003 |
Iniencephaly |
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Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Cystic hygroma, ... |
ORPHA:63259 |
Triploidy |
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Meningocele, Holoprosencephaly, Hydrocephalus, Short neck |
ORPHA:3376 |
Bor Syndrome |
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Branchial cyst |
ORPHA:107 |
Waardenburg Syndrome Type 1 |
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Meningocele, Spina bifida |
ORPHA:894 |
Sacral Defect With Anterior Meningocele |
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Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
Autosomal Recessive Spondylocostal Dysostosis |
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Spina bifida occulta, Meningocele, Short neck, Umbilical hernia |
ORPHA:2311 |
Fountain Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Branchiootorenal Syndrome 1 |
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Branchial fistula, Branchial cyst |
OMIM:113650 |
Neu-Laxova Syndrome 2 |
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Short neck, Spina bifida, Lissencephaly |
OMIM:616038 |
Cerebrocostomandibular Syndrome |
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Webbed neck, Hydranencephaly, Myelomeningocele, Spina bifida, Meningocele |
ORPHA:1393 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Gray matter heterotopia, Cystic hygroma, Increased nuchal translucency, Branchial anomaly |
ORPHA:453499 |
Joubert Syndrome 14 |
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Hydrocephalus, Meningocele, Encephalocele |
OMIM:614424 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Meningocele |
ORPHA:2031 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Spina bifida |
ORPHA:1120 |
Fliedner-Zweier Syndrome |
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Meningocele |
OMIM:620511 |
Holoprosencephaly |
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Spinal dysraphism, Branchial anomaly, Encephalocele, Abnormality of neuronal migration, Short nec... |
ORPHA:2162 |
Acromelic Frontonasal Dysplasia |
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Meningocele, Encephalocele |
ORPHA:1827 |
Pelvis-Shoulder Dysplasia |
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Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Lateral Meningocele Syndrome |
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Low posterior hairline, Short neck, Meningocele, Umbilical hernia |
ORPHA:2789 |
Chromosome 17P13.1 Deletion Syndrome |
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Webbed neck, Broad neck, Umbilical hernia, Short neck, Hydrocephalus, Spina bifida |
OMIM:613776 |
Lumbar Syndrome |
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Myelomeningocele, Spina bifida |
ORPHA:83628 |
Oligomeganephronia |
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Branchial cyst |
ORPHA:2260 |
Neu-Laxova Syndrome |
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Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Spina bifida, Pach... |
ORPHA:2671 |
Lateral Meningocele Syndrome |
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Short neck, Meningocele, Hydrocephalus, Umbilical hernia |
OMIM:130720 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Branchial anomaly |
ORPHA:466950 |
Curry-Jones Syndrome |
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Occipital meningocele, Lipomyelomeningocele, Polymicrogyria |
OMIM:601707 |
Trisomy 20P |
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Low posterior hairline, Short neck, Spina bifida, Umbilical hernia |
ORPHA:261318 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Gray matter heterotopia, Cystic hygroma, Increased nuchal translucency, Branchial anomaly |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Gray matter heterotopia, Cystic hygroma, Increased nuchal translucency, Branchial anomaly |
ORPHA:352665 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Polymicrogyria, Occipital meningocele, Short neck, Hydrocephalus, Anencephaly |
OMIM:616546 |
Pagod Syndrome |
|
Abnormality of neuronal migration, Meningocele, Encephalocele, Spina bifida |
ORPHA:991 |
Mosaic Trisomy 9 |
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Cystic hygroma, Webbed neck, Short neck, Spina bifida |
ORPHA:99776 |
Phakomatosis Pigmentokeratotica |
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Spina bifida |
ORPHA:2874 |
Waardenburg Syndrome, Type 1 |
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Myelomeningocele, Spina bifida |
OMIM:193500 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Distal 22Q11.2 Microdeletion Syndrome |
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Branchial fistula |
ORPHA:261330 |
Vacterl With Hydrocephalus |
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Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Distal 22Q11.2 Microduplication Syndrome |
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Low posterior hairline, Webbed neck, Branchial fistula, Hydrocephalus |
ORPHA:261337 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Meningocele, Occipital encephalocele, Redundant neck skin |
ORPHA:397715 |
Treacher-Collins Syndrome |
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Branchial fistula, Encephalocele |
ORPHA:861 |
Limb Body Wall Complex |
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Myelomeningocele, Encephalocele, Short umbilical cord, Hydrocephalus, Spina bifida, Spina bifida ... |
ORPHA:2369 |
Trisomy 18 |
|
Webbed neck, Holoprosencephaly, Anencephaly, Spina bifida |
ORPHA:3380 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Lathosterolosis |
|
Meningocele |
ORPHA:46059 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Orofaciodigital Syndrome Vi |
|
Periventricular nodular heterotopia, Occipital meningocele, Polymicrogyria |
OMIM:277170 |
Aicardi Syndrome |
|
Pachygyria, Gray matter heterotopia, Spina bifida, Polymicrogyria |
OMIM:304050 |
Phocomelia, Schinzel Type |
|
Meningocele, Short neck |
ORPHA:2879 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Spina bifida |
OMIM:234100 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Neu-Laxova Syndrome 1 |
|
Broad neck, Hydranencephaly, Small placenta, Short umbilical cord, Neonatal death, Short neck, Sp... |
OMIM:256520 |
Focal Dermal Hypoplasia |
|
Spina bifida, Umbilical hernia |
ORPHA:2092 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Natal tooth, Branchial cyst |
OMIM:620186 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Jacobsen Syndrome |
|
Pachygyria, Webbed neck, Short neck, Spina bifida |
ORPHA:2308 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... |
OMIM:610828 |
Knobloch Syndrome 1 |
|
Spina bifida occulta, Occipital encephalocele, Occipital meningocele, Polymicrogyria |
OMIM:267750 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short neck, Spina bifida |
ORPHA:508498 |
8Q24.3 Microdeletion Syndrome |
|
Spina bifida occulta, Short neck, Branchial cyst |
ORPHA:508488 |
Arima Syndrome |
|
Gray matter heterotopia, Occipital meningocele |
OMIM:243910 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Torticollis |
OMIM:619480 |
Campomelic Dysplasia |
|
Hydrocephalus, Spinal dysraphism, Spina bifida |
OMIM:114290 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Alobar holoprosencephaly, Short neck, Hydrocephalus, Holoprosencephal... |
OMIM:610829 |
22Q11.2 Deletion Syndrome |
|
Umbilical hernia, Short neck, Hydrocephalus, Spina bifida, Meningocele |
ORPHA:567 |
Fanconi Anemia |
|
Hydrocephalus, Spina bifida, Umbilical hernia |
ORPHA:84 |
Thrombocytopenia-Absent Radius Syndrome |
|
Spina bifida |
OMIM:274000 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Spina bifida |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Spina bifida |
ORPHA:363958 |
Branchiooculofacial Syndrome |
|
Low posterior hairline, Short neck, Branchial anomaly |
OMIM:113620 |
Vater/Vacterl Association |
|
Patent urachus, Occipital encephalocele, Spina bifida |
OMIM:192350 |
Witteveen-Kolk Syndrome |
|
Bilateral polymicrogyria, Branchial fistula |
OMIM:613406 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Spina bifida, Neonatal death |
OMIM:614437 |
Rubinstein-Taybi Syndrome 1 |
|
Low posterior hairline, Spina bifida occulta, Spina bifida |
OMIM:180849 |
Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Short neck, Hydrocephalus, Spina bifida, Stillbirth |
OMIM:304120 |
Marfan Syndrome |
|
Meningocele |
ORPHA:558 |
Femoral-Facial Syndrome |
|
Encephalocele, Spina bifida |
OMIM:134780 |
Craniofacial Microsomia 1 |
|
Branchial anomaly, Occipital encephalocele, Hydrocephalus |
OMIM:164210 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Broad neck, Short neck, Occipital meningocele |
OMIM:276820 |
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 |