Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect |
ORPHA:2476 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... |
ORPHA:1908 |
Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
Subependymal Nodular Heterotopia |
|
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele |
ORPHA:101030 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Meningocele, Anenc... |
OMIM:611134 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Ventricular septal defect |
ORPHA:2345 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida |
OMIM:207950 |
Schisis Association |
|
Anencephaly, Encephalocele, Spina bifida |
ORPHA:63862 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Atrial se... |
ORPHA:1120 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Diaphanospondylodysostosis |
|
Myelomeningocele |
ORPHA:66637 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
Triploidy |
|
Hydrocephalus, Abnormal cardiac septum morphology, Polyhydramnios, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Spina bifida |
OMIM:620439 |
Sirenomelia |
|
Sirenomelia, Spina bifida |
ORPHA:3169 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Isolated Posterior Meningocele |
|
Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube... |
ORPHA:268810 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Spina bifida, Dextrocardia, Spina bifida occulta |
ORPHA:2437 |
Meckel Syndrome, Type 2 |
|
Meningocele, Anencephaly, Encephalocele |
OMIM:603194 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Alg3-Cdg |
|
Cardiomyopathy, Neural tube defect |
ORPHA:79321 |
Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Meningocele, Ventricular septal defect |
OMIM:620511 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida |
ORPHA:1327 |
Joubert Syndrome 14 |
|
Hydrocephalus, Meningocele, Encephalocele, Ventricular septal defect |
OMIM:614424 |
Fountain Syndrome |
|
Facial edema, Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Enlarged Parietal Foramina |
|
Myelomeningocele, Occipital encephalocele |
ORPHA:60015 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Spina bifida occulta, Meningocele, Anomalous pulmonary venous return, Umbilical hernia |
ORPHA:2311 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Sacral Defect With Anterior Meningocele |
|
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
Neu-Laxova Syndrome 2 |
|
Polyhydramnios, Spina bifida, Edema |
OMIM:616038 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Iniencephaly |
|
Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Polyhydramnios, ... |
ORPHA:63259 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Situs inversus totalis, Hydrocephalus, Dextrocardia, Spina bifida occulta |
OMIM:613686 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Ventricular septal defect, Spina bifida, Meningocele |
ORPHA:1393 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Endocardial fibroelastosis, Oligohydramnios, Ventricular septal ... |
ORPHA:99776 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Meningocele, P... |
OMIM:130720 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Hydranencephaly, Spina bifida |
ORPHA:2839 |
Lateral Meningocele Syndrome |
|
Meningocele, Ventricular septal defect, Umbilical hernia |
ORPHA:2789 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Encephalocele |
ORPHA:1827 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Lymphedema |
ORPHA:2874 |
Limb Body Wall Complex |
|
Myelomeningocele, Abnormal heart morphology, Encephalocele, Short umbilical cord, Ventricular sep... |
ORPHA:2369 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Atrial septal defect, Polyhydramnios, Hydrops fetalis, Anen... |
OMIM:616546 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Oligohydramnios, Spina bifida, Umbilical hernia |
OMIM:613776 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... |
OMIM:306955 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Polyhydramnios, Spina bifida |
ORPHA:3412 |
Pagod Syndrome |
|
Hypoplastic left heart, Situs inversus totalis, Encephalocele, Spina bifida, Meningocele |
ORPHA:991 |
Trisomy 18 |
|
Oligohydramnios, Ventricular septal defect, Atrial septal defect, Spina bifida, Holoprosencephaly... |
ORPHA:3380 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Fibular Hemimelia |
|
Abnormal heart morphology, Spina bifida |
ORPHA:93323 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma |
OMIM:109400 |
Trisomy 20P |
|
Spina bifida, Umbilical hernia |
ORPHA:261318 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Focal Dermal Hypoplasia |
|
Umbilical hernia, Ventricular septal defect, Spina bifida, Abnormal cardiac septum morphology, Pa... |
ORPHA:2092 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Neu-Laxova Syndrome |
|
Polyhydramnios, Spina bifida |
ORPHA:2671 |
Neu-Laxova Syndrome 1 |
|
Generalized edema, Hydranencephaly, Small placenta, Short umbilical cord, Patent foramen ovale, V... |
OMIM:256520 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Lathosterolosis |
|
Meningocele |
ORPHA:46059 |
Phocomelia, Schinzel Type |
|
Meningocele, Hydrops fetalis |
ORPHA:2879 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Occipital encephalocele |
ORPHA:397715 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect... |
ORPHA:508498 |
Orofaciodigital Syndrome Vi |
|
Hypoplastic left heart, Occipital meningocele |
OMIM:277170 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Edema of the dorsu... |
OMIM:274000 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Atrioventricular canal defect, Patent ductus arteriosus, Spina bifida |
OMIM:619480 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... |
OMIM:610828 |
Neurofibromatosis, Type I |
|
Hydrocephalus, Aqueductal stenosis, Spina bifida |
OMIM:162200 |
Fanconi Anemia |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Azoospermia, Oligohydramnios,... |
ORPHA:84 |
Vater/Vacterl Association |
|
Occipital encephalocele, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
OMIM:192350 |
Hallermann-Streiff Syndrome |
|
Spina bifida |
OMIM:234100 |
22Q11.2 Deletion Syndrome |
|
Umbilical hernia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal aortic valve... |
ORPHA:567 |
Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Spina bifida, Ventricular septal defect |
ORPHA:2308 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Atri... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Atri... |
ORPHA:363958 |
Campomelic Dysplasia |
|
Spinal dysraphism, Abnormal heart morphology, Hydrocephalus, Spina bifida, Polyhydramnios |
OMIM:114290 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Oligohydramnios, Right ventricular dilatation, Spina bifida, Neonatal death |
OMIM:614437 |
Knobloch Syndrome 1 |
|
Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele |
OMIM:267750 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Femoral-Facial Syndrome |
|
Encephalocele, Truncus arteriosus, Ventricular septal defect, Spina bifida, Patent ductus arterio... |
OMIM:134780 |
Rubinstein-Taybi Syndrome 1 |
|
Hypoplastic left heart, Mitral valve prolapse, Ventricular septal defect, Patent foramen ovale, P... |
OMIM:180849 |
Semilobar Holoprosencephaly |
|
Abnormal heart morphology, Hydrocephalus, Neural tube defect |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Abnormal heart morphology, Hydrocephalus, Neural tube defect |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal heart morphology, Hydrocephalus, Neural tube defect |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal heart morphology, Hydrocephalus, Neural tube defect |
ORPHA:93924 |
Exstrophy-Epispadias Complex |
|
Abnormal heart morphology, Hydrocephalus, Spina bifida |
ORPHA:322 |
Marfan Syndrome |
|
Tricuspid valve prolapse, Meningocele, Mitral valve calcification, Mitral valve prolapse |
ORPHA:558 |
Arima Syndrome |
|
Occipital meningocele |
OMIM:243910 |
Holoprosencephaly 9 |
|
Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus |
OMIM:610829 |
Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Hydrocephalus, Atrial septal defect, Stillbirth, Spina bifida |
OMIM:304120 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele |
OMIM:276820 |
Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus totalis, Ventricul... |
ORPHA:289 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Atrioventricular canal defect, Polyhydramnios, Patent ductus arteriosus |
OMIM:617088 |
Jeune Syndrome |
|
|
ORPHA:474 |