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 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
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 |
Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia |
OMIM:207950 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida |
ORPHA:1327 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Syr... |
ORPHA:63259 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Hy... |
OMIM:600145 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Meningocele, Spina bifida |
ORPHA:1393 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
Diabetic Embryopathy |
|
Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Neu-Laxova Syndrome 2 |
|
Spina bifida |
OMIM:616038 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Abnormal spinal cord morphology, An... |
ORPHA:2369 |
Mosaic Trisomy 9 |
|
Spina bifida |
ORPHA:99776 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Spinal dysraphism |
OMIM:617660 |
Trisomy 18 |
|
Anencephaly, Holoprosencephaly, Spina bifida |
ORPHA:3380 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Isolated Posterior Meningocele |
|
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... |
ORPHA:268810 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Spinal dysraphism |
OMIM:612918 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Neu-Laxova Syndrome |
|
Spina bifida |
ORPHA:2671 |
Focal Dermal Hypoplasia |
|
Umbilical hernia, Spina bifida |
ORPHA:2092 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Hallermann-Streiff Syndrome |
|
Spina bifida |
OMIM:234100 |
Pagod Syndrome |
|
Encephalocele, Meningocele, Spina bifida |
ORPHA:991 |
Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Meni... |
ORPHA:573278 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism |
OMIM:603546 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Ulnar Hemimelia |
|
Spinal dysraphism |
ORPHA:93320 |
22Q11.2 Deletion Syndrome |
|
Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical hernia |
ORPHA:567 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Spina bifida, Dural ectasia |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Spina bifida, Dural ectasia |
ORPHA:363958 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida |
ORPHA:508498 |
Thrombocytopenia-Absent Radius Syndrome |
|
Syringomyelia, Spina bifida |
OMIM:274000 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Campomelic Dysplasia |
|
Hydrocephalus, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Jacobsen Syndrome |
|
Spina bifida |
ORPHA:2308 |
Holoprosencephaly |
|
Encephalocele, Hydrocephalus, Spinal cord tumor, Spinal dysraphism, Branchial anomaly, Holoprosen... |
ORPHA:2162 |
Fanconi Anemia |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
ORPHA:84 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Rubinstein-Taybi Syndrome 1 |
|
Spina bifida occulta, Spina bifida |
OMIM:180849 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida |
OMIM:619480 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Small placenta, Short umbilical cord, Spina bifida |
OMIM:256520 |
Vater/Vacterl Association |
|
Occipital encephalocele, Tethered cord, Spina bifida, Patent urachus |
OMIM:192350 |
Cartilage-Hair Hypoplasia |
|
Spinal dysraphism |
ORPHA:175 |
Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:304120 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Large placenta, Spinal dysraphism |
ORPHA:96334 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:475 |
Joubert Syndrome 8 |
|
Occipital encephalocele |
OMIM:612291 |