Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Lambert Syndrome |
|
Ventricular septal defect, Branchial anomaly |
ORPHA:1296 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart |
ORPHA:2476 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Hepatomegaly, Anemia, Thrombocytopenia, Intrauterine growth retardation, Cardiomegaly |
ORPHA:858 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse, Spina bifida |
OMIM:211960 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Ventricular septal defect, Congenital muscular torticollis, Webbed neck, Spina bifida... |
ORPHA:2345 |
X-Linked Mandibulofacial Dysostosis |
|
Pulmonic stenosis, Abnormal mitral valve morphology, Webbed neck, Branchial anomaly |
ORPHA:1131 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Cardiomegaly |
OMIM:300886 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly |
OMIM:269920 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... |
ORPHA:1120 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy |
OMIM:207950 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly |
ORPHA:63862 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Umbili... |
OMIM:239850 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, C... |
OMIM:601005 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Hydrocephalus, Holoprosencephaly, Short neck, Tetralogy of F... |
ORPHA:2162 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:618652 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Short stature, Growth delay, Intrauterine growth retardation, ... |
OMIM:253250 |
Amish Lethal Microcephaly |
|
Spina bifida, Hepatomegaly, Lissencephaly |
ORPHA:99742 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal d... |
OMIM:306955 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Ventricular septal de... |
ORPHA:453499 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Short neck, Cervical spina bifida, Low posterior hairline |
OMIM:600122 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Thickened nuchal skin fold, Spina bifida occulta, Dextrocardia, ... |
ORPHA:2437 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Short stature, Bone-marrow foam cells, Cardio... |
OMIM:256550 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly |
OMIM:619051 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida, Intrauterine growth retardation, Short stature |
ORPHA:1327 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid valve prolapse, Hydrocephalus, Branchial fistula, Ventricular septal defect, Patent duc... |
ORPHA:261337 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hydrocephalus, Hepatomegaly, Splenomegaly, Mitral va... |
OMIM:231005 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Short stature, Hydranencephaly, Ventricular septal defect, Meningocele, Spina b... |
ORPHA:1393 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Cantú Syndrome |
|
Patent ductus arteriosus, Umbilical hernia, Abnormal heart valve morphology, Hypertrophic cardiom... |
ORPHA:1517 |
Alg3-Cdg |
|
Cardiomyopathy, Neural tube defect |
ORPHA:79321 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Cystic hygroma, Branchial... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Cystic hygroma, Branchial... |
ORPHA:352665 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Hepatomegaly, Pachygyria, Polymicrogyria, Abnormal myocardium morphology, Abnormal... |
ORPHA:228308 |
Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... |
OMIM:300257 |
Mosaic Trisomy 9 |
|
Atrial septal defect, Endocardial fibroelastosis, Ventricular septal defect, Dextrocardia, Patent... |
ORPHA:99776 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Cystic hygrom... |
ORPHA:63259 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Posterior Meningocele |
|
Occipital meningocele, Hydrocephalus, Neural tube defect, Limitation of neck motion, Meningocele,... |
ORPHA:268810 |
Pagod Syndrome |
|
Hypoplastic left heart, Short stature, Abnormality of the spleen, Situs inversus totalis, Meningo... |
ORPHA:991 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Short stature, Ventricular se... |
ORPHA:363705 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... |
ORPHA:1457 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Branchial fistula, Atrial septal defect, Truncus arteriosus |
ORPHA:261330 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Fountain Syndrome |
|
Spina bifida, Spina bifida occulta, Short stature |
ORPHA:3219 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Ventricular septal defect, Overriding aorta, Intrauterine growth retard... |
OMIM:617022 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiome... |
OMIM:616897 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Postnatal gr... |
ORPHA:96191 |
Limb Body Wall Complex |
|
Myelomeningocele, Hydrocephalus, Atrial septal defect, Short umbilical cord, Anencephaly, Spina b... |
ORPHA:2369 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:201475 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly |
OMIM:235200 |
Treacher-Collins Syndrome |
|
Encephalocele, Patent ductus arteriosus, Branchial fistula |
ORPHA:861 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Intrauterine growth retardation, Lissencephaly |
OMIM:616038 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Short stature, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb short... |
ORPHA:2839 |
Neu-Laxova Syndrome 1 |
|
Stillbirth, Short umbilical cord, Hydranencephaly, Small placenta, Ventricular septal defect, Lis... |
OMIM:256520 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Short stature |
OMIM:613320 |
Trisomy 18 |
|
Atrial septal defect, Holoprosencephaly, Short stature, Anencephaly, Ventricular septal defect, G... |
ORPHA:3380 |
Waardenburg Syndrome Type 1 |
|
Spina bifida, Meningocele |
ORPHA:894 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Anemia, Thrombocytopenia, Intraut... |
OMIM:608013 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Cardiomegaly |
ORPHA:229 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Iron deficiency anemia |
ORPHA:99931 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... |
ORPHA:324410 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Neu-Laxova Syndrome |
|
Polymicrogyria, Abnormal cortical gyration, Lissencephaly, Abnormality of neuronal migration, Pac... |
ORPHA:2671 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Anemia, Congenital thrombocytopenia, Cardiomegaly |
OMIM:618886 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosis, Short stature... |
OMIM:602782 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Short stature, Left ventricular hyper... |
OMIM:245600 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Splenomegaly, Severe postnatal growth retardation, Myelopathy, Enlarged kidney, Umb... |
OMIM:252500 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Decreased mean corpuscular volume, Hepatomegaly, Leukocytosis, Anisocyto... |
OMIM:618278 |
Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly, Umbilical hernia |
OMIM:618143 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Fibular Hemimelia |
|
Thrombocytopenia, Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Leigh Syndrome With Nephrotic Syndrome |
|
Intrauterine growth retardation, Cardiomegaly |
ORPHA:255249 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Hydrocephalus, Hepatomegaly, Splenomegaly, Abnormal aortic valv... |
ORPHA:581 |
Sickle Cell Anemia |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiomegaly, Increased... |
OMIM:603903 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation |
ORPHA:3412 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Polymicrogyria, Enlarged kidney, Dilated cardiomyopathy, Abnormality of neuronal mi... |
OMIM:608836 |
Truncus Arteriosus |
|
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Hypoplasia of the thymus,... |
ORPHA:3384 |
Craniofaciofrontodigital Syndrome |
|
Short stature, Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Fanconi Anemia |
|
Abnormal cardiac septum morphology, Hydrocephalus, Intrauterine growth retardation, Atrial septal... |
ORPHA:84 |
Focal Dermal Hypoplasia |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Patent ductus arteriosus, Umbilica... |
ORPHA:2092 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Short stature, Ventricular septal defect, Dilated cardiomyopathy, Delayed puberty, ... |
OMIM:614921 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly |
ORPHA:465508 |
Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Short stature, Thrombocytopenia, Ventricular septa... |
ORPHA:2308 |
22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Abnormal pulmonary valve morphology, Hydrocephalus, Atrial septal defect, Sple... |
ORPHA:567 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
Ogden Syndrome |
|
Growth delay, Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Postnat... |
OMIM:300855 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... |
ORPHA:57777 |
Fucosidosis |
|
Hepatomegaly, Vacuolated lymphocytes, Short stature, Splenomegaly, Cardiomegaly |
OMIM:230000 |
Thrombocytopenia-Absent Radius Syndrome |
|
Atrial septal defect, Leukocytosis, Atrioventricular canal defect, Short stature, Hepatosplenomeg... |
OMIM:274000 |
Trisomy 20P |
|
Short neck, Spina bifida, Low posterior hairline, Umbilical hernia |
ORPHA:261318 |
Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, Left ventricular hypertrophy, Hepatosplenomegaly, Thrombocyto... |
ORPHA:79330 |
Basal Cell Nevus Syndrome |
|
Hydrocephalus, Spina bifida, Cardiac rhabdomyoma, Cardiac fibroma |
OMIM:109400 |
Lethal Acantholytic Erosive Disorder |
|
Intrauterine growth retardation, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Atrioventricular canal defect, Short stature, Tetralogy of Fallot, Ventric... |
ORPHA:508498 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Short stature, Hepatosplenomegaly, Arrhinencephaly, Chronic... |
ORPHA:51 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Craniofacial Microsomia |
|
Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Branchia... |
OMIM:164210 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Vater/Vacterl Association |
|
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Patent ductus ar... |
OMIM:192350 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Short neck, Spina bifida occulta, Ventricular septal defect, Compl... |
ORPHA:508488 |
Yunis-Varon Syndrome |
|
Hydrocephalus, Atrial septal defect, Short stature, Arrhinencephaly, Tetralogy of Fallot, Ventric... |
ORPHA:3472 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Nail-Patella Syndrome |
|
Spina bifida, Short stature |
OMIM:161200 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Atrial septal defect, Lymphocytosis, Splenomegaly, Anemia, Leukopenia, Ventricular ... |
OMIM:619991 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly, Short stature |
OMIM:208000 |
Aicardi Syndrome |
|
Gray matter heterotopia, Polymicrogyria, Postnatal growth retardation, Pachygyria, Spina bifida |
OMIM:304050 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Patent ductus arteriosus, Atrioventricular canal defect |
OMIM:619480 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Hydrocephalus, Hepatomegaly, Cardiomegaly |
ORPHA:137675 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
ORPHA:308552 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal... |
ORPHA:363958 |
Rubinstein-Taybi Syndrome 1 |
|
Atrial septal defect, Hypoplastic left heart, Postnatal growth retardation, Short stature, Access... |
OMIM:180849 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Branchiooculofacial Syndrome |
|
Short neck, Low posterior hairline, Branchial anomaly |
OMIM:113620 |
Campomelic Dysplasia |
|
Hydrocephalus, Neonatal short-limb short stature, Disproportionate short-limb short stature, Spin... |
OMIM:114290 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Patent ductus arteriosus, Cardiomegaly |
ORPHA:91387 |
Neurofibromatosis, Type I |
|
Hydrocephalus, Spina bifida, Aqueductal stenosis |
OMIM:162200 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Splenomegaly, Polycythemia, Enlarged kidney, Visceromegaly, Umbilical hernia, Hyper... |
ORPHA:116 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Intrauterine growth retardation, Cardiomegaly, Short stature |
ORPHA:97297 |
Glycogen Storage Disease Ii |
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Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Hallermann-Streiff Syndrome |
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Proportionate short stature, Spina bifida |
OMIM:234100 |
Congenital Total Pulmonary Venous Return Anomaly |
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Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... |
ORPHA:99125 |
Abetalipoproteinemia |
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Hepatomegaly, Reticulocytosis, Acanthocytosis, Anemia, Cardiomegaly |
ORPHA:14 |
Witteveen-Kolk Syndrome |
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Branchial fistula |
OMIM:613406 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... |
ORPHA:1677 |
Semilobar Holoprosencephaly |
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Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology |
ORPHA:220386 |
Williams Syndrome |
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Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Overriding aorta... |
ORPHA:904 |
Alobar Holoprosencephaly |
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Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology |
ORPHA:93924 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
ORPHA:365 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Splenomegaly, Short stature, Microcytic anemia, Growth delay, Thrombocytopenia, Car... |
OMIM:256040 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Eosinop... |
ORPHA:75565 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly |
OMIM:130650 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Split Cord Malformation |
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Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele |
ORPHA:573278 |
Singleton-Merten Syndrome 1 |
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Aortic valve calcification, Aortic valve stenosis, Short stature, Mitral valve calcification, Sub... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Pericardial effusion, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
Colorectal Cancer |
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OMIM:114500 |