Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly |
OMIM:603194 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly |
OMIM:611134 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Meningocele |
ORPHA:2481 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly |
ORPHA:1393 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Amish Lethal Microcephaly |
|
Death in infancy, Spina bifida |
ORPHA:99742 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida |
ORPHA:1327 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Spina bifida |
ORPHA:1120 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele |
OMIM:614424 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Meningocele, Spina bifida occulta |
ORPHA:2311 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Meningocele, Spina bifida |
ORPHA:991 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele |
ORPHA:2789 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Hydrocephalus, Meningocele |
OMIM:130720 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Neu-Laxova Syndrome 2 |
|
Spina bifida |
OMIM:616038 |
Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Trisomy 18 |
|
Anencephaly, Holoprosencephaly, Spina bifida |
ORPHA:3380 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele |
ORPHA:397715 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Mosaic Trisomy 9 |
|
Spina bifida |
ORPHA:99776 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly |
OMIM:616546 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Lathosterolosis |
|
Meningocele |
ORPHA:46059 |
Neu-Laxova Syndrome |
|
Spina bifida |
ORPHA:2671 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Focal Dermal Hypoplasia |
|
Umbilical hernia, Spina bifida |
ORPHA:2092 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Hallermann-Streiff Syndrome |
|
Spina bifida |
OMIM:234100 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Stillbirth, Neonatal death, Small placenta, Short umbilical cord, Hydranencephaly |
OMIM:256520 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Jacobsen Syndrome |
|
Death in infancy, Spina bifida |
ORPHA:2308 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Phocomelia, Schinzel Type |
|
Meningocele |
ORPHA:2879 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Spina bifida |
OMIM:274000 |
22Q11.2 Deletion Syndrome |
|
Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical hernia |
ORPHA:567 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele |
OMIM:277170 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida |
ORPHA:508498 |
Campomelic Dysplasia |
|
Hydrocephalus, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Spina bifida |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Spina bifida |
ORPHA:363958 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Fanconi Anemia |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
ORPHA:84 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Spina bifida occulta |
OMIM:267750 |
Rubinstein-Taybi Syndrome 1 |
|
Spina bifida occulta, Spina bifida |
OMIM:180849 |
Arima Syndrome |
|
Occipital meningocele |
OMIM:243910 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida |
OMIM:619480 |
Marfan Syndrome |
|
Meningocele |
ORPHA:558 |
Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida |
OMIM:304120 |
Vater/Vacterl Association |
|
Occipital encephalocele, Spina bifida, Patent urachus |
OMIM:192350 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele |
OMIM:276820 |
Coloboma, Ocular, Autosomal Recessive |
|
|
OMIM:216820 |