Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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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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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Myelopathy, Htlv-1-Associated |
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Myelopathy |
OMIM:159580 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Myelopathy |
OMIM:602475 |
Hemihyperplasia, Isolated |
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Myelomeningocele |
OMIM:235000 |
Frontal Encephalocele |
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Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Joubert Syndrome 15 |
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Exencephaly |
OMIM:614464 |
Congenital Herpes Simplex Virus Infection |
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Hydranencephaly |
ORPHA:293 |
Acalvaria |
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Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Neural Tube Defects, Susceptibility To |
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Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Isolated Anencephaly/Exencephaly |
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Anencephaly |
ORPHA:1048 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Anencephaly, Spina bifida |
ORPHA:2476 |
Isolated Hemihyperplasia |
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Myelomeningocele |
ORPHA:2128 |
Congenital Vertical Talus |
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Myelomeningocele |
ORPHA:178382 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida |
OMIM:211960 |
Subependymal Nodular Heterotopia |
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Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Aplasia Cutis Congenita |
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Spinal dysraphism |
ORPHA:1114 |
Wildervanck Syndrome |
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Meningocele |
ORPHA:3456 |
Schisis Association |
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Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Nevus Comedonicus Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:64754 |
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 |
Chiari Malformation Type Ii |
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Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Diaphanospondylodysostosis |
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Myelomeningocele |
ORPHA:66637 |
Acropectorovertebral Dysplasia |
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Spina bifida |
ORPHA:957 |
Muscle-Eye-Brain Disease |
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Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Meckel Syndrome, Type 2 |
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Encephalocele, Meningocele, Anencephaly |
OMIM:603194 |
Meckel Syndrome, Type 4 |
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Encephalocele, Hydrocephalus, Meningocele, Anencephaly |
OMIM:611134 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect |
OMIM:119580 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
Sirenomelia |
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Spina bifida, Sirenomelia |
ORPHA:3169 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Enlarged Parietal Foramina |
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Occipital encephalocele, Myelomeningocele |
ORPHA:60015 |
Isolated Klippel-Feil Syndrome |
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Spina bifida |
ORPHA:2345 |
Anophthalmia Plus Syndrome |
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Spina bifida |
ORPHA:1104 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
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Meningocele |
ORPHA:2003 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Encephalocele, Exencephaly |
ORPHA:2211 |
Histidinemia |
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Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly |
OMIM:207770 |
Czeizel-Losonci Syndrome |
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Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Alg3-Cdg |
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Neural tube defect |
ORPHA:79321 |
Tyrosinosis |
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Hypertyrosinemia |
OMIM:276800 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Spina bifida |
ORPHA:1327 |
Neurocutaneous Melanocytosis |
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Meningocele |
ORPHA:2481 |
Waardenburg Syndrome Type 1 |
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Meningocele, Spina bifida |
ORPHA:894 |
Triploidy |
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Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Iniencephaly |
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Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Amish Lethal Microcephaly |
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Spina bifida |
ORPHA:99742 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Meningocele |
ORPHA:2031 |
Fountain Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Cerebrocostomandibular Syndrome |
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Hydranencephaly, Myelomeningocele, Meningocele, Spina bifida |
ORPHA:1393 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Spina bifida |
ORPHA:1120 |
Joubert Syndrome 14 |
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Encephalocele, Hydrocephalus, Meningocele |
OMIM:614424 |
Autosomal Recessive Spondylocostal Dysostosis |
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Umbilical hernia, Meningocele, Spina bifida occulta |
ORPHA:2311 |
Lumbar Syndrome |
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Myelomeningocele, Spina bifida |
ORPHA:83628 |
Acromelic Frontonasal Dysplasia |
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Encephalocele, Meningocele |
ORPHA:1827 |
Pelvis-Shoulder Dysplasia |
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Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Neu-Laxova Syndrome 2 |
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Spina bifida |
OMIM:616038 |
Lateral Meningocele Syndrome |
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Umbilical hernia, Meningocele |
ORPHA:2789 |
Waardenburg Syndrome, Type 1 |
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Myelomeningocele, Spina bifida |
OMIM:193500 |
Lateral Meningocele Syndrome |
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Umbilical hernia, Hydrocephalus, Meningocele |
OMIM:130720 |
Phakomatosis Pigmentokeratotica |
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Spina bifida |
ORPHA:2874 |
Cloacal Exstrophy |
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Myelomeningocele, Spina bifida |
ORPHA:93929 |
Chromosome 17P13.1 Deletion Syndrome |
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Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Vacterl With Hydrocephalus |
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Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Curry-Jones Syndrome |
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Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Trisomy 20P |
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Umbilical hernia, Spina bifida |
ORPHA:261318 |
Pagod Syndrome |
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Encephalocele, Meningocele, Spina bifida |
ORPHA:991 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Occipital meningocele, Hydrocephalus, Anencephaly |
OMIM:616546 |
Limb Body Wall Complex |
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Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Nail-Patella Syndrome |
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Spina bifida |
OMIM:161200 |
Trisomy 18 |
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Anencephaly, Holoprosencephaly, Spina bifida |
ORPHA:3380 |
Lathosterolosis |
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Meningocele |
ORPHA:46059 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Meningocele |
ORPHA:1010 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Occipital encephalocele, Meningocele |
ORPHA:397715 |
Mosaic Trisomy 9 |
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Spina bifida |
ORPHA:99776 |
Fibular Hemimelia |
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Spina bifida |
ORPHA:93323 |
Neu-Laxova Syndrome |
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Spina bifida |
ORPHA:2671 |
Neurofibromatosis, Type I |
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Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Basal Cell Nevus Syndrome 1 |
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Hydrocephalus, Spina bifida |
OMIM:109400 |
Phocomelia, Schinzel Type |
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Meningocele |
ORPHA:2879 |
Focal Dermal Hypoplasia |
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Umbilical hernia, Spina bifida |
ORPHA:2092 |
Hallermann-Streiff Syndrome |
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Spina bifida |
OMIM:234100 |
Split Cord Malformation |
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Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Orofaciodigital Syndrome Vi |
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Occipital meningocele |
OMIM:277170 |
Neu-Laxova Syndrome 1 |
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Spina bifida, Stillbirth, Neonatal death, Small placenta, Short umbilical cord, Hydranencephaly |
OMIM:256520 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Spina bifida |
ORPHA:508498 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Spina bifida |
OMIM:619480 |
Jacobsen Syndrome |
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Spina bifida |
ORPHA:2308 |
Knobloch Syndrome 1 |
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Occipital meningocele, Occipital encephalocele, Spina bifida occulta |
OMIM:267750 |
22Q11.2 Deletion Syndrome |
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Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical hernia |
ORPHA:567 |
Campomelic Dysplasia |
|
Hydrocephalus, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Arima Syndrome |
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Occipital meningocele |
OMIM:243910 |
Thrombocytopenia-Absent Radius Syndrome |
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Spina bifida |
OMIM:274000 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hydrocephalus, Spina bifida |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Spina bifida |
ORPHA:363958 |
Fanconi Anemia |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
ORPHA:84 |
Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Neural tube defect, Hydrocephalus |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus |
ORPHA:93924 |
Vater/Vacterl Association |
|
Occipital encephalocele, Spina bifida, Patent urachus |
OMIM:192350 |
Marfan Syndrome |
|
Meningocele |
ORPHA:558 |
Schinzel-Giedion Syndrome |
|
Umbilical hernia, Neural tube defect |
ORPHA:798 |
Rubinstein-Taybi Syndrome 1 |
|
Spina bifida occulta, Spina bifida |
OMIM:180849 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida |
OMIM:304120 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Occipital meningocele |
OMIM:276820 |
Exercise Intolerance, Riboflavin-Responsive |
|
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OMIM:616839 |