Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect, Type II lissencephaly |
OMIM:615041 |
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 |
Acalvaria |
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Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Cleft palate, Holoprosencephaly |
ORPHA:945 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... |
ORPHA:2476 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Frontal Encephalocele |
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Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Subependymal Nodular Heterotopia |
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Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... |
ORPHA:101030 |
Thoraco-Abdominal Enteric Duplication |
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Intestinal malrotation, Dextrocardia, Meningocele, Duodenal stenosis, Abnormal tricuspid valve mo... |
ORPHA:1759 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Hemihyperplasia, Isolated |
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Myelomeningocele |
OMIM:235000 |
Schisis Association |
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Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Anal atresia |
ORPHA:63862 |
Fryns Microphthalmia Syndrome |
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Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
Isolated Klippel-Feil Syndrome |
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Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Anal atresia |
ORPHA:2345 |
Isolated Hemihyperplasia |
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Myelomeningocele |
ORPHA:2128 |
Neural Tube Defects, Susceptibility To |
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Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Chiari Malformation Type Ii |
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Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy |
OMIM:207950 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Meckel Syndrome, Type 4 |
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Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... |
OMIM:611134 |
Nevus Comedonicus Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Caudal Duplication |
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Myelomeningocele, Intestinal duplication, Spina bifida |
ORPHA:1756 |
Acropectorovertebral Dysplasia |
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High, narrow palate, Cleft palate, Spina bifida |
ORPHA:957 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia |
ORPHA:63260 |
Wildervanck Syndrome |
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Meningocele |
ORPHA:3456 |
Sirenomelia |
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Anal atresia, Tracheoesophageal fistula, Spina bifida, Sirenomelia |
ORPHA:3169 |
Diaphanospondylodysostosis |
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Myelomeningocele, Cleft palate |
ORPHA:66637 |
Humero-Radial Synostosis |
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Meningocele |
ORPHA:3265 |
Meckel Syndrome, Type 2 |
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Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate |
OMIM:603194 |
Muscle-Eye-Brain Disease |
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Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect, Anal atresia |
OMIM:119580 |
Anophthalmia Plus Syndrome |
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Cleft palate, Spina bifida, Bilateral cleft lip and palate |
ORPHA:1104 |
Triploidy |
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Intestinal malrotation, Hydrocephalus, Meningocele, Cleft palate, Macroglossia, Abnormal cardiac ... |
ORPHA:3376 |
Czeizel-Losonci Syndrome |
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Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High pala... |
ORPHA:2437 |
Alg3-Cdg |
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Macroglossia, Neural tube defect, Cardiomyopathy, High palate, Abnormal uvula morphology |
ORPHA:79321 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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High palate, Spina bifida |
ORPHA:1327 |
Enlarged Parietal Foramina |
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Occipital encephalocele, Myelomeningocele, Cleft palate |
ORPHA:60015 |
Neurocutaneous Melanocytosis |
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Meningocele, Abnormality of neuronal migration |
ORPHA:2481 |
Amish Lethal Microcephaly |
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Lissencephaly, Cleft soft palate, Spina bifida |
ORPHA:99742 |
Waardenburg Syndrome Type 1 |
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Cleft palate, Meningocele, Aganglionic megacolon, Spina bifida |
ORPHA:894 |
Autosomal Recessive Spondylocostal Dysostosis |
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Meningocele, Cleft palate, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occulta |
ORPHA:2311 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
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Meningocele, Bilateral cleft lip and palate |
ORPHA:2003 |
Joubert Syndrome 14 |
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Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate |
OMIM:614424 |
Cerebrocostomandibular Syndrome |
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Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi... |
ORPHA:1393 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Iniencephaly |
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Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Lis... |
ORPHA:63259 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Glossoptosis, Meningocele |
ORPHA:2031 |
Fountain Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Neu-Laxova Syndrome 2 |
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Cleft palate, High palate, Spina bifida, Lissencephaly |
OMIM:616038 |
Lateral Meningocele Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Mening... |
OMIM:130720 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess |
OMIM:600145 |
Lateral Meningocele Syndrome |
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Ventricular septal defect, High, narrow palate, Meningocele, High palate, Umbilical hernia |
ORPHA:2789 |
Pelvis-Shoulder Dysplasia |
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Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia |
ORPHA:2839 |
Limb Body Wall Complex |
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Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Mosaic Trisomy 9 |
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Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Intestina... |
ORPHA:99776 |
Acromelic Frontonasal Dysplasia |
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Encephalocele, Meningocele, Median cleft palate |
ORPHA:1827 |
Neu-Laxova Syndrome |
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Abnormal cortical gyration, Spina bifida, Polymicrogyria, Submucous cleft hard palate, Abnormalit... |
ORPHA:2671 |
Curry-Jones Syndrome |
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Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lipomyelomeningocele, Occip... |
OMIM:601707 |
Heterotaxy, Visceral, 1, X-Linked |
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Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Lumbar Syndrome |
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Anal atresia, Myelomeningocele, Ectopic anus, Spina bifida |
ORPHA:83628 |
Pagod Syndrome |
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Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Abnormality of neuronal migrati... |
ORPHA:991 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Atrial septal defect, Occipital me... |
OMIM:616546 |
Chromosome 17P13.1 Deletion Syndrome |
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Spina bifida, High, narrow palate, Hydrocephalus, High palate, Umbilical hernia |
OMIM:613776 |
Trisomy 18 |
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Ventricular septal defect, Spina bifida, Esophageal atresia, Anencephaly, Cleft palate, Narrow pa... |
ORPHA:3380 |
Vacterl With Hydrocephalus |
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Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, ... |
ORPHA:3412 |
Orofaciodigital Syndrome Vi |
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Hamartoma of tongue, Cleft palate, Lobulated tongue, High palate, Hypoplastic left heart, Occipit... |
OMIM:277170 |
Cloacal Exstrophy |
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Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Anal atresia |
ORPHA:93929 |
Trisomy 20P |
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Umbilical hernia, Ectopic anus, Spina bifida |
ORPHA:261318 |
Focal Dermal Hypoplasia |
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Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... |
ORPHA:2092 |
Basal Cell Nevus Syndrome 1 |
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Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, ... |
OMIM:109400 |
Phakomatosis Pigmentokeratotica |
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Spina bifida |
ORPHA:2874 |
Fibular Hemimelia |
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Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Neu-Laxova Syndrome 1 |
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Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft palate, Stillbirth, Liss... |
OMIM:256520 |
Nail-Patella Syndrome |
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Cleft palate, Spina bifida |
OMIM:161200 |
Jacobsen Syndrome |
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Ventricular septal defect, Intestinal malrotation, Spina bifida, Pyloric stenosis, Duodenal atres... |
ORPHA:2308 |
Waardenburg Syndrome, Type 1 |
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Myelomeningocele, Spina bifida |
OMIM:193500 |
Lathosterolosis |
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Meningocele, High palate |
ORPHA:46059 |
Phocomelia, Schinzel Type |
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High, narrow palate, Meningocele, Tracheoesophageal fistula, Cleft palate, Anal atresia |
ORPHA:2879 |
Fanconi Anemia |
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Meckel diverticulum, Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Hydroc... |
ORPHA:84 |
Aicardi Syndrome |
|
Spina bifida, Hiatus hernia, Cleft palate, Gray matter heterotopia, Pachygyria, Polymicrogyria |
OMIM:304050 |
22Q11.2 Deletion Syndrome |
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Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Aganglionic megacol... |
ORPHA:567 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Occipital encephalocele, Meningocele |
ORPHA:397715 |
Vater/Vacterl Association |
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Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct... |
OMIM:192350 |
Hallermann-Streiff Syndrome |
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High, narrow palate, Narrow palate, High palate, Spina bifida |
OMIM:234100 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Perimembranou... |
ORPHA:508498 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Patent ductus arteriosus, Atrioventricular canal defect, Bifid uvula, Spina bifida |
OMIM:619480 |
Thrombocytopenia-Absent Radius Syndrome |
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Meckel diverticulum, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft pal... |
OMIM:274000 |
Holoprosencephaly 7 |
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Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Cle... |
OMIM:610828 |
Knobloch Syndrome 1 |
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Occipital encephalocele, Pyloric stenosis, Patent ductus arteriosus, Occipital meningocele, Spina... |
OMIM:267750 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Meningocele |
ORPHA:1010 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Abnormal heart morphology... |
OMIM:114290 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363958 |
Arima Syndrome |
|
Gray matter heterotopia, Occipital meningocele, Esophageal varix |
OMIM:243910 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, High, narrow palate, Patent ductus arteriosus, Cleft pal... |
OMIM:180849 |
Marfan Syndrome |
|
Mitral valve calcification, High, narrow palate, Meningocele, Cleft palate, Mitral valve prolapse |
ORPHA:558 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Exstrophy-Epispadias Complex |
|
Anal stenosis, Spina bifida, Hydrocephalus, Abnormal heart morphology, Anal atresia |
ORPHA:322 |
Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Hydrocephalus, Cleft palate, Stillbirth, Atrial septal defect, Umbilical hernia |
OMIM:304120 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, High palate, Narrow palate |
OMIM:276820 |