Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly |
OMIM:615041 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck |
ORPHA:1131 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Verheij Syndrome |
|
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck |
OMIM:615583 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration |
ORPHA:945 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... |
ORPHA:101030 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Wildervanck Syndrome |
|
Webbed neck, Meningocele, Low posterior hairline, Short neck |
ORPHA:3456 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri... |
ORPHA:2345 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy |
OMIM:207950 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Short neck |
ORPHA:66637 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... |
ORPHA:2162 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Cystic hygroma, Meningocele, Anencephaly |
OMIM:603194 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:352665 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Branchial fistula, Truncus arteriosus, Ventricular septal defect |
ORPHA:261330 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Czeizel-Losonci Syndrome |
|
Thickened nuchal skin fold, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bi... |
ORPHA:2437 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Low poster... |
ORPHA:261337 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Triploidy |
|
Short neck, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly |
ORPHA:3376 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Neurocutaneous Melanocytosis |
|
Meningocele, Abnormality of neuronal migration |
ORPHA:2481 |
Isolated Posterior Meningocele |
|
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... |
ORPHA:268810 |
Alg3-Cdg |
|
Neural tube defect, Cardiomyopathy |
ORPHA:79321 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus |
ORPHA:861 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Abnormality of dental eruption, Spina bifida |
ORPHA:1327 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele |
ORPHA:60015 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Short neck, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occulta |
ORPHA:2311 |
Amish Lethal Microcephaly |
|
Lissencephaly, Spina bifida |
ORPHA:99742 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect |
OMIM:614424 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Short neck, Situs inversus totalis, Myelomeningocele, Hydrocephalus, Spina bifida o... |
OMIM:613686 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Webbed neck, Hydranencephaly |
ORPHA:1393 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Lis... |
ORPHA:63259 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Atrial septal defect, Patent foramen ovale, Right ventricular hypert... |
OMIM:620186 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Complete at... |
ORPHA:508488 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Short neck, Meningocele, Low posterior hairline, Umbilical hernia |
ORPHA:2789 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Short neck, Abnormal heart valve morpholog... |
ORPHA:99776 |
Neu-Laxova Syndrome 2 |
|
Lissencephaly, Spina bifida, Short neck |
OMIM:616038 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Short neck, Hydrocephalus, Meningocele, Patent ... |
OMIM:130720 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Abnormality of neuronal migrati... |
ORPHA:991 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, Short neck, Hydrocephalus, Webbed neck, Umbilical hernia, Broad neck |
OMIM:613776 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Short neck, Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningocele, Polymicrogyria |
OMIM:616546 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr... |
ORPHA:2671 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran... |
OMIM:164210 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele, Polymicrogyria |
OMIM:601707 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Branchiooculofacial Syndrome |
|
Branchial anomaly, Low posterior hairline, Short neck |
OMIM:113620 |
Trisomy 18 |
|
Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Webbed neck, Atrial sept... |
ORPHA:3380 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Trisomy 20P |
|
Umbilical hernia, Low posterior hairline, Spina bifida, Short neck |
ORPHA:261318 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Short neck, Patent foramen ovale, Patent ductus arterios... |
OMIM:256520 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Periventricular nodular heterotopia, Polymicrogyria, Hypoplastic left heart |
OMIM:277170 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida |
OMIM:109400 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... |
ORPHA:2092 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Bilateral polymicrogyria |
OMIM:613406 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele, Redundant neck skin |
ORPHA:397715 |
Lathosterolosis |
|
Meningocele |
ORPHA:46059 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Torticollis, Atrioventricular canal defect, Spina bifida |
OMIM:619480 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Short neck, Ventricular septal defect, P... |
ORPHA:508498 |
Jacobsen Syndrome |
|
Ventricular septal defect, Spina bifida, Short neck, Hypoplastic left heart, Webbed neck, Aortic ... |
ORPHA:2308 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Phocomelia, Schinzel Type |
|
Meningocele, Short neck |
ORPHA:2879 |
Aicardi Syndrome |
|
Gray matter heterotopia, Pachygyria, Polymicrogyria, Spina bifida |
OMIM:304050 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Short neck, Hydroce... |
ORPHA:567 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Spina bifida |
OMIM:234100 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele, Spina bifida occulta, P... |
OMIM:267750 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Atrial septal defect, Atrioven... |
OMIM:274000 |
Fanconi Anemia |
|
Spina bifida, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnorm... |
ORPHA:84 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
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 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Campomelic Dysplasia |
|
Hydrocephalus, Abnormal heart morphology, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Arima Syndrome |
|
Gray matter heterotopia, Occipital meningocele |
OMIM:243910 |
Marfan Syndrome |
|
Mitral valve calcification, Meningocele, Mitral valve prolapse |
ORPHA:558 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Low posterior hairline, Mitral... |
OMIM:180849 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93924 |
Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Short neck, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia |
OMIM:304120 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Broad neck, Short neck |
OMIM:276820 |
Opitz-Kaveggia Syndrome |
|
Short neck, Hydrocephalus, Abnormal heart morphology, Gray matter heterotopia, Umbilical hernia |
OMIM:305450 |
Fg Syndrome Type 1 |
|
Hydrocephalus, Mitral valve prolapse, Atrial septal defect, Umbilical hernia, Broad neck |
ORPHA:93932 |
Hardikar Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Partial anomalous pulmonary venous return, A... |
OMIM:301068 |
Lujan-Fryns Syndrome |
|
Atrial septal defect |
ORPHA:776 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:309520 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect |
ORPHA:2728 |
Ohdo Syndrome, X-Linked |
|
|
OMIM:300895 |
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type |
|
|
ORPHA:293707 |