Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Cardiomyopathy, Dilated, 1R |
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Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Left Ventricular Noncompaction 7 |
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Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Small thenar eminence, Camptodact... |
OMIM:211960 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Gg |
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Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
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Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri... |
OMIM:252011 |
Left Ventricular Noncompaction 1 |
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Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Frontal Encephalocele |
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Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Left Ventricular Noncompaction 10 |
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Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Thoraco-Abdominal Enteric Duplication |
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Camptodactyly of finger, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... |
ORPHA:1908 |
Meckel Syndrome, Type 4 |
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Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Combined Oxidative Phosphorylation Deficiency 31 |
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Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Acalvaria |
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Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Left Ventricular Noncompaction 8 |
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Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
Hemihyperplasia, Isolated |
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Skeletal muscle hypertrophy, Myelomeningocele |
OMIM:235000 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Combined Oxidative Phosphorylation Deficiency 20 |
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Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Isolated Klippel-Feil Syndrome |
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Congenital muscular torticollis, Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Patent ductus arteriosus, A... |
ORPHA:1120 |
Schisis Association |
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Encephalocele, Congenital diaphragmatic hernia, Anencephaly, Spina bifida |
ORPHA:63862 |
Subependymal Nodular Heterotopia |
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Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Neural Tube Defects, Susceptibility To |
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Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Chiari Malformation Type Ii |
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Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weakness |
OMIM:207950 |
Wildervanck Syndrome |
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Meningocele, Facial palsy |
ORPHA:3456 |
Muscle-Eye-Brain Disease |
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Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Nevus Comedonicus Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
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Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
Triploidy |
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Hydrocephalus, Meningocele, Macroglossia, Abnormal cardiac septum morphology, Holoprosencephaly, ... |
ORPHA:3376 |
Autosomal Recessive Spondylocostal Dysostosis |
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Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Anomalous p... |
ORPHA:2311 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Scapular winging, Short stature, Camptodactyly of finger, Spina bifida, Intrauterine growth retar... |
ORPHA:1327 |
Meckel Syndrome, Type 2 |
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Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
Czeizel-Losonci Syndrome |
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Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
Acropectorovertebral Dysplasia |
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Camptodactyly of finger, Spina bifida |
ORPHA:957 |
Atrial Standstill |
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Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... |
ORPHA:1344 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Caudal Duplication |
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Myelomeningocele, Spina bifida |
ORPHA:1756 |
Humero-Radial Synostosis |
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Meningocele |
ORPHA:3265 |
Alg3-Cdg |
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Macroglossia, Neural tube defect, Arthrogryposis multiplex congenita, Cardiomyopathy |
ORPHA:79321 |
Craniorachischisis |
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Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... |
ORPHA:63260 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
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Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro... |
OMIM:619167 |
Cerebrocostomandibular Syndrome |
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Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranence... |
ORPHA:1393 |
Joubert Syndrome 14 |
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Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Growth delay |
OMIM:614424 |
Cardiomyopathy, Dilated, 1D |
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Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Lateral Meningocele Syndrome |
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Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Short stature, Hydroceph... |
OMIM:130720 |
Anophthalmia Plus Syndrome |
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Spina bifida |
ORPHA:1104 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect |
OMIM:119580 |
Mosaic Trisomy 9 |
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Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Camptodac... |
ORPHA:99776 |
Limb Body Wall Complex |
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Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... |
ORPHA:2369 |
Fountain Syndrome |
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Spina bifida occulta, Short stature, Spina bifida |
ORPHA:3219 |
Pelvis-Shoulder Dysplasia |
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Short stature, Camptodactyly of finger, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydro... |
ORPHA:2839 |
Lateral Meningocele Syndrome |
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Umbilical hernia, Meningocele, Ventricular septal defect |
ORPHA:2789 |
Waardenburg Syndrome Type 1 |
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Meningocele, Spina bifida |
ORPHA:894 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Sick Sinus Syndrome 2 |
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Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Isolated Posterior Meningocele |
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Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Iniencephaly |
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Encephalocele, Rhizomelia, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, Hydro... |
ORPHA:63259 |
Trisomy 18 |
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Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida... |
ORPHA:3380 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Meningocele, Short stature |
ORPHA:2031 |
Amish Lethal Microcephaly |
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Spina bifida, Limb hypertonia |
ORPHA:99742 |
Neurocutaneous Melanocytosis |
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Meningocele |
ORPHA:2481 |
Sirenomelia |
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Spina bifida, Sirenomelia |
ORPHA:3169 |
Heterotaxy, Visceral, 1, X-Linked |
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Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Cardiomyopathy, Dilated, 1S |
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Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... |
OMIM:613426 |
Pagod Syndrome |
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Encephalocele, Short stature, Congenital diaphragmatic hernia, Spina bifida, Situs inversus total... |
ORPHA:991 |
Neu-Laxova Syndrome 1 |
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Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical co... |
OMIM:256520 |
Chromosome 17P13.1 Deletion Syndrome |
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Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Generalized amy... |
OMIM:613776 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
Focal Dermal Hypoplasia |
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Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Campto... |
ORPHA:2092 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
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Meningocele |
ORPHA:2003 |
Long Qt Syndrome 15 |
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Left ventricular noncompaction |
OMIM:616249 |
Acromelic Frontonasal Dysplasia |
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Encephalocele, Meningocele |
ORPHA:1827 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Spina bifida, Flexion contracture, Muscular dystrophy, Intrauterine grow... |
ORPHA:2671 |
Nail-Patella Syndrome |
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Biceps aplasia, Short stature, Spina bifida, Absence of pectoralis minor muscle, Triceps aplasia,... |
OMIM:161200 |
Fanconi Anemia |
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Abnormality of chromosome stability, Short stature, Spina bifida, Hydrocephalus, Patent ductus ar... |
ORPHA:84 |
Trisomy 20P |
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Umbilical hernia, Camptodactyly of finger, Spina bifida |
ORPHA:261318 |
Fibular Hemimelia |
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Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meni... |
OMIM:616546 |
Vacterl With Hydrocephalus |
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Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Bicuspid aortic valve, Facial palsy, Spina bifida, Truncus arteriosus, Ventricular septal defect,... |
ORPHA:508498 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P... |
OMIM:192350 |
22Q11.2 Deletion Syndrome |
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Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Short stature, Hydr... |
ORPHA:567 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Spina bifida |
ORPHA:2874 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida |
OMIM:109400 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh... |
ORPHA:397715 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Lathosterolosis |
|
Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
Jacobsen Syndrome |
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Ventricular septal defect, Short stature, Spina bifida, Growth delay, Hypoplastic left heart, Int... |
ORPHA:2308 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Hypoplastic left heart, Short stature |
OMIM:277170 |
Thrombocytopenia-Absent Radius Syndrome |
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Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida, Short stature, Patent ductus... |
OMIM:274000 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Torticollis, Spina bifida, Patent ductus arteriosus, Unilateral facial palsy, Atrioventricular ca... |
OMIM:619480 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal gr... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal gr... |
ORPHA:363958 |
Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Disproportionate short stature, Meningocele |
ORPHA:2879 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Hallermann-Streiff Syndrome |
|
Proportionate short stature, Spina bifida |
OMIM:234100 |
Neurofibromatosis, Type I |
|
Short stature, Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Hydrocephalus |
OMIM:162200 |
Campomelic Dysplasia |
|
Spina bifida, Contracture of the distal interphalangeal joint of the fingers, Hydrocephalus, Abno... |
OMIM:114290 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Short stature, Spina bifida, Postnatal growth retardation, Patent duct... |
OMIM:180849 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Flexion contracture of finger, Meningocele |
ORPHA:1010 |
Otopalatodigital Syndrome, Type Ii |
|
Short stature, Elbow contracture, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stil... |
OMIM:304120 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Meningocele, Mitral valve prolapse |
ORPHA:558 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Distal... |
ORPHA:573278 |
Aicardi Syndrome |
|
Postnatal growth retardation, Spina bifida |
OMIM:304050 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Arima Syndrome |
|
Growth delay, Occipital meningocele |
OMIM:243910 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Disproportionate short stature, Elbow flexion contracture |
OMIM:276820 |