Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Frontal Encephalocele |
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Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification |
ORPHA:1931 |
Neural Tube Defects, X-Linked |
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Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
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Spina bifida, Anencephaly |
OMIM:206500 |
Acalvaria |
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Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Spina bifida, Anencephaly |
ORPHA:2476 |
Nevus Comedonicus Syndrome |
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Spina bifida, Microcephaly, Spina bifida occulta |
ORPHA:64754 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida |
OMIM:211960 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Schisis Association |
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Spina bifida, Anencephaly, Microcephaly |
ORPHA:63862 |
Chiari Malformation Type Ii |
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Agenesis of corpus callosum, Spina bifida, Hydrocephalus, Myelomeningocele |
OMIM:207950 |
Alg3-Cdg |
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Neural tube defect, Cerebral white matter atrophy, Abnormal cerebral morphology, Subcortical cere... |
ORPHA:79321 |
Caudal Duplication |
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Spina bifida, Myelomeningocele |
ORPHA:1756 |
Craniorachischisis |
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Sirenomelia, Myelomeningocele, Anencephaly, Cervical spina bifida, Spinal dysraphism |
ORPHA:63260 |
Amish Lethal Microcephaly |
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Spina bifida, Agenesis of corpus callosum, Microcephaly, Lissencephaly |
ORPHA:99742 |
Acropectorovertebral Dysplasia |
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Spina bifida |
ORPHA:957 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect |
OMIM:119580 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Spina bifida, Intrauterine growth retardation, Microcephaly |
ORPHA:1327 |
Isolated Klippel-Feil Syndrome |
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Spina bifida |
ORPHA:2345 |
Anophthalmia Plus Syndrome |
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Spina bifida |
ORPHA:1104 |
Cerebrocostomandibular Syndrome |
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Meningocele, Hydranencephaly, Intrauterine growth retardation, Myelomeningocele, Spina bifida, Po... |
ORPHA:1393 |
Czeizel-Losonci Syndrome |
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Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta |
ORPHA:2437 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Spina bifida, Patent ductus arteriosus |
ORPHA:1120 |
Sirenomelia |
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Spina bifida, Sirenomelia |
ORPHA:3169 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
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Cervical spina bifida |
OMIM:600122 |
Fountain Syndrome |
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Spina bifida, Spina bifida occulta |
ORPHA:3219 |
Waardenburg Syndrome Type 1 |
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Meningocele, Spina bifida |
ORPHA:894 |
Iniencephaly |
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Myelomeningocele, Anencephaly, Holoprosencephaly, Lissencephaly, Spina bifida, Hydrocephalus, Spi... |
ORPHA:63259 |
Posterior Meningocele |
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Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele |
ORPHA:268810 |
Neu-Laxova Syndrome |
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Abnormal cortical gyration, Intrauterine growth retardation, Absent septum pellucidum, Pachygyria... |
ORPHA:2671 |
Pelvis-Shoulder Dysplasia |
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Spina bifida, Hydrocephalus, Hydranencephaly |
ORPHA:2839 |
Neu-Laxova Syndrome 1 |
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Short umbilical cord, Hydranencephaly, Intrauterine growth retardation, Stillbirth, Small placent... |
OMIM:256520 |
Mosaic Trisomy 9 |
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Microcephaly, Spina bifida, Intrauterine growth retardation, Patent ductus arteriosus |
ORPHA:99776 |
Vacterl With Hydrocephalus |
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Arrhinencephaly, Intrauterine growth retardation, Spina bifida, Hydrocephalus, Aqueductal stenosis |
ORPHA:3412 |
Trisomy 18 |
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Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia... |
ORPHA:3380 |
Trisomy 20P |
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Spina bifida, Umbilical hernia |
ORPHA:261318 |
Lumbar Syndrome |
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Spina bifida, Myelomeningocele |
ORPHA:83628 |
Aicardi Syndrome |
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Dilated third ventricle, Partial agenesis of the corpus callosum, Cavum septum pellucidum, Pachyg... |
OMIM:304050 |
Focal Dermal Hypoplasia |
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Spina bifida, Umbilical hernia, Patent ductus arteriosus |
ORPHA:2092 |
Waardenburg Syndrome, Type 1 |
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Spina bifida, Myelomeningocele |
OMIM:193500 |
Basal Cell Nevus Syndrome |
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Spina bifida, Hydrocephalus, Calcification of falx cerebri |
OMIM:109400 |
Fibular Hemimelia |
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Spina bifida |
ORPHA:93323 |
Cloacal Exstrophy |
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Spina bifida, Myelomeningocele |
ORPHA:93929 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Partial agenesis of the corpus callosum, Spina bifida, Thin corpus callosum, Patent ductus arteri... |
OMIM:619480 |
Limb Body Wall Complex |
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Short umbilical cord, Myelomeningocele, Anencephaly, Spina bifida, Hydrocephalus, Spina bifida oc... |
ORPHA:2369 |
22Q11.2 Deletion Syndrome |
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Meningocele, Arrhinencephaly, Intrauterine growth retardation, Occipital myelomeningocele, Patent... |
ORPHA:567 |
Hallermann-Streiff Syndrome |
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Spina bifida, Microcephaly |
OMIM:234100 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Spina bifida, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis of corpus... |
ORPHA:508498 |
Jacobsen Syndrome |
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Intrauterine growth retardation, Pachygyria, Spina bifida, Cerebral atrophy, Agenesis of corpus c... |
ORPHA:2308 |
Pagod Syndrome |
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Meningocele, Spina bifida, Microcephaly |
ORPHA:991 |
Fanconi Anemia |
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Intrauterine growth retardation, Patent ductus arteriosus, Spina bifida, Hydrocephalus, Umbilical... |
ORPHA:84 |
Alobar Holoprosencephaly |
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Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... |
ORPHA:220386 |
Neurofibromatosis, Type I |
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Spina bifida, Hydrocephalus, Aqueductal stenosis |
OMIM:162200 |
Thrombocytopenia-Absent Radius Syndrome |
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Cavum septum pellucidum, Spina bifida |
OMIM:274000 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Pineal cyst, Spina bifida, Hydrocephalus, Decreased response to growth hormone stimulation test, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Pineal cyst, Spina bifida, Hydrocephalus, Decreased response to growth hormone stimulation test, ... |
ORPHA:363958 |
Schinzel-Giedion Syndrome |
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Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Umbilical hernia, Neural tube defect |
ORPHA:798 |
Vater/Vacterl Association |
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Patent urachus, Spina bifida, Intrauterine growth retardation, Patent ductus arteriosus |
OMIM:192350 |
Exstrophy-Epispadias Complex |
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Spina bifida, Hydrocephalus, Microcephaly |
ORPHA:322 |
Split Cord Malformation |
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Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele |
ORPHA:573278 |