Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Neural Tube Defects, X-Linked |
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Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Fryns Microphthalmia Syndrome |
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Neural tube defect, Bilateral cleft lip and palate, Facial cleft |
OMIM:600776 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Anterior encephalocele, Holoprosencephaly, Omphalocele, Facial cleft |
OMIM:601357 |
Spina Bifida-Hypospadias Syndrome |
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Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Facial Clefting, Oblique, 1 |
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Facial cleft |
OMIM:600251 |
Triopia |
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Midline facial cleft, Cleft palate, Encephalocele |
ORPHA:3374 |
Supernumerary Nostril |
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Facial cleft |
ORPHA:141096 |
Anophthalmia Plus Syndrome |
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Spina bifida, Bilateral cleft lip and palate, Cleft palate, Facial cleft |
ORPHA:1104 |
Isolated Anencephaly/Exencephaly |
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Anencephaly |
ORPHA:1048 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
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Ethmoidal encephalocele, Cleft palate, High, narrow palate, Facial cleft |
OMIM:607597 |
Frontonasal Dysplasia 3 |
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Facial cleft |
OMIM:613456 |
Constricting Bands, Congenital |
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Gastroschisis, Bladder exstrophy, Omphalocele, Encephalocele, Facial cleft |
OMIM:217100 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Ectopic anus, Anencephaly, Spina bifida, Cleft palate |
ORPHA:2476 |
Frontofacionasal Dysplasia |
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Cleft palate, Encephalocele, Facial cleft |
ORPHA:1791 |
Acrofacial Dysostosis, Weyers Type |
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Facial cleft |
ORPHA:952 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
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Facial cleft |
OMIM:239800 |
Oculomaxillofacial Dysostosis |
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Facial cleft |
ORPHA:1794 |
Acalvaria |
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Holoprosencephaly, Spina bifida, Cleft palate, Hydrocephalus |
ORPHA:945 |
Acrofacial Dysostosis, Catania Type |
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Spina bifida occulta, Inguinal hernia, Facial cleft |
ORPHA:1786 |
Frontal Encephalocele |
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Spina bifida, Encephalocele, Hydrocephalus |
ORPHA:1931 |
Cerebrooculonasal Syndrome |
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Facial cleft |
ORPHA:66625 |
Schisis Association |
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Anencephaly, Tracheoesophageal fistula, Anal atresia, Spina bifida, Cleft palate, Encephalocele |
ORPHA:63862 |
Oculocerebrocutaneous Syndrome |
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Hydrocephalus, Facial cleft |
ORPHA:1647 |
Mosaic Trisomy 9 |
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High palate, Intestinal malrotation, Abnormal liver lobulation, Spina bifida, Asplenia, Cleft pal... |
ORPHA:99776 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Craniorachischisis |
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Myelomeningocele, Cervical spina bifida, Anencephaly, Anal atresia, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Caudal Duplication |
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Intestinal duplication, Spina bifida, Myelomeningocele |
ORPHA:1756 |
Short Rib-Polydactyly Syndrome |
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Abnormality of the liver, Intestinal malrotation, Gastrointestinal atresia, Cleft palate, Hepatic... |
ORPHA:1505 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Hypoplasia of the frontal bone, Facial cleft, Cleft palate, Cranium bifidum occultum |
ORPHA:306542 |
Mycophenolate Mofetil Embryopathy |
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Tracheoesophageal fistula, Facial cleft, Hydrocephalus |
ORPHA:268249 |
Amish Lethal Microcephaly |
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Cleft soft palate, Death in infancy, Spina bifida, Hepatomegaly |
ORPHA:99742 |
Treacher-Collins Syndrome |
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High palate, Rectovaginal fistula, Tracheoesophageal fistula, Branchial fistula, Glossoptosis, Cl... |
ORPHA:861 |
Sirenomelia |
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Spina bifida, Tracheoesophageal fistula, Anal atresia, Sirenomelia |
ORPHA:3169 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida |
OMIM:211960 |
Acropectorovertebral Dysplasia |
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Spina bifida, Cleft palate, High, narrow palate |
ORPHA:957 |
Isolated Klippel-Feil Syndrome |
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Ectopic anus, Spina bifida, Cleft palate, Anal atresia |
ORPHA:2345 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly |
OMIM:207770 |
Chiari Malformation Type Ii |
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Myelomeningocele, Spina bifida, Dysphagia, Hydrocephalus, Cervical myelopathy |
OMIM:207950 |
3Mc Syndrome 3 |
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Facial cleft |
OMIM:248340 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Isolated Arrhinia |
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Facial cleft |
ORPHA:1134 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Facial cleft |
ORPHA:1236 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect, Anal atresia |
OMIM:119580 |
Fraser Syndrome 1 |
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Myelomeningocele, Abnormality of the small intestine, Abnormality of the anus, Hydrocephalus, Cle... |
OMIM:219000 |
Bartsocas-Papas Syndrome 1 |
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Inguinal hernia, Omphalocele, Facial cleft |
OMIM:263650 |
Alg3-Cdg |
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High palate, Abnormality of the gastrointestinal tract, Decreased liver function, Macroglossia, N... |
ORPHA:79321 |
Czeizel-Losonci Syndrome |
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High palate, Myelomeningocele, Tracheoesophageal fistula, Spina bifida, Hydrocephalus, Spina bifi... |
ORPHA:2437 |
Iniencephaly |
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Myelomeningocele, Anencephaly, Anal atresia, Spinal dysraphism, Spina bifida, Hydrocephalus, Holo... |
ORPHA:63259 |
Cerebrocostomandibular Syndrome |
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Myelomeningocele, Hydranencephaly, Spina bifida, Short hard palate, Glossoptosis, Death in infanc... |
ORPHA:1393 |
Holoprosencephaly 1 |
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Ethmocephaly, Alobar holoprosencephaly, Facial cleft |
OMIM:236100 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Spina bifida |
ORPHA:1327 |
Waardenburg Syndrome Type 1 |
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Spina bifida, Meningocele, Cleft palate, Aganglionic megacolon |
ORPHA:894 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Exencephaly, Encephalocele |
ORPHA:2211 |
Lumbar Syndrome |
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Ectopic anus, Spina bifida, Myelomeningocele, Anal atresia |
ORPHA:83628 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Death in infancy, Spina bifida |
ORPHA:1120 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
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Cervical spina bifida |
OMIM:600122 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Ectopic anus, Facial cleft, Esophageal atresia, Anal atresia, Congenital hepatic fibrosis, Bifid ... |
ORPHA:93271 |
Vacterl With Hydrocephalus |
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Tracheoesophageal fistula, Anal atresia, Esophageal atresia, Spina bifida, Hydrocephalus, Aqueduc... |
ORPHA:3412 |
Cloacal Exstrophy |
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Myelomeningocele, Intestinal malrotation, Intestinal duplication, Anal atresia, Spina bifida |
ORPHA:93929 |
Fountain Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Pelvis-Shoulder Dysplasia |
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Hydranencephaly, Microglossia, Spina bifida, Hydrocephalus, Cleft palate |
ORPHA:2839 |
Limb Body Wall Complex |
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Short umbilical cord, Myelomeningocele, Abnormality of the liver, Anencephaly, Spina bifida, Abno... |
ORPHA:2369 |
Trisomy 18 |
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Anencephaly, Anal atresia, Esophageal atresia, Spina bifida, Holoprosencephaly, Narrow palate, Cl... |
ORPHA:3380 |
Pagod Syndrome |
|
Spina bifida, Abnormality of the spleen, Death in infancy, Meningocele, Encephalocele |
ORPHA:991 |
Trisomy 20P |
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Umbilical hernia, Ectopic anus, Spina bifida |
ORPHA:261318 |
Posterior Meningocele |
|
Occipital meningocele, Lipomyelomeningocele, Neural tube defect, Hydrocephalus, Meningocele |
ORPHA:268810 |
Jacobsen Syndrome |
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Ectopic anus, Intestinal malrotation, Spina bifida, Abnormality of the anus, Pyloric stenosis, An... |
ORPHA:2308 |
Thrombocytopenia-Absent Radius Syndrome |
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Hepatosplenomegaly, Pancreatic cysts, Meckel diverticulum, Spina bifida, Death in infancy |
OMIM:274000 |
Focal Dermal Hypoplasia |
|
Gastroesophageal reflux, Acute hepatic failure, Spina bifida, Umbilical hernia, Duodenal atresia |
ORPHA:2092 |
Fanconi Anemia |
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High palate, Abnormality of the liver, Tracheoesophageal fistula, Aganglionic megacolon, Aplasia/... |
ORPHA:84 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Occipital myelomeningocele, Gastrointestinal hemorrhage, Intestinal malrotation, ... |
ORPHA:567 |
Basal Cell Nevus Syndrome |
|
Hamartomatous stomach polyps, Spina bifida, Cleft palate, Hydrocephalus |
OMIM:109400 |
Neu-Laxova Syndrome |
|
Submucous cleft hard palate, Spina bifida, Bifid uvula, Cleft palate |
ORPHA:2671 |
Nail-Patella Syndrome |
|
Spina bifida, Cleft palate |
OMIM:161200 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele |
OMIM:193500 |
Hallermann-Streiff Syndrome |
|
High palate, Spina bifida, Narrow palate, High, narrow palate |
OMIM:234100 |
Aicardi Syndrome |
|
Hiatus hernia, Spina bifida, Cleft palate, Hepatoblastoma |
OMIM:304050 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Campomelic Dysplasia |
|
High palate, Spinal dysraphism, Submucous cleft hard palate, Spina bifida, Hydrocephalus, Wide an... |
OMIM:114290 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Hydranencephaly, Spina bifida, Small placenta, Cleft palate, Stillbirth |
OMIM:256520 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Cyst of the ductus choledochus, Spina bifida, Bifid uvula, Gastroesophageal reflux |
OMIM:619480 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Exocrine pancreatic insufficiency, Spina bifida |
ORPHA:508498 |
Vater/Vacterl Association |
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Occipital encephalocele, Tracheoesophageal fistula, Anal atresia, Patent urachus, Esophageal atre... |
OMIM:192350 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus |
OMIM:162200 |
Exstrophy-Epispadias Complex |
|
Abnormality of the gastrointestinal tract, Anal stenosis, Anal atresia, Spina bifida, Hydrocephalus |
ORPHA:322 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spina bifida, Hydrocephalus |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Hydrocephalus |
ORPHA:363958 |
Craniofacial Microsomia |
|
Occipital encephalocele, Transverse facial cleft, Hydrocephalus, Branchial anomaly, Cleft palate |
OMIM:164210 |
Split Cord Malformation |
|
Myelomeningocele, Cervical spina bifida, Lipomyelomeningocele, Hydrocephalus, Meningocele |
ORPHA:573278 |