Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Ventricular septal defect, Failure to thrive, Double outlet right ventricle, Pulmonic stenosis, T... |
OMIM:601127 |
7P22.1 Microduplication Syndrome |
|
Abnormal heart morphology, Hypertelorism, Abnormality of the outer ear, Macrocephaly, Cryptorchidism |
ORPHA:314034 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Cardiomyopathy, Atrial septal defect, Oligohydramnios... |
ORPHA:1909 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonary insufficiency, Hepatomegaly, Ascites, Restrictive cardiomyopathy, Tricuspid regurgitati... |
OMIM:619433 |
Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Pectus excavatum, Depressed nasal bridge, Palmoplantar cutis laxa, H... |
OMIM:618499 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Syncope, Pericardial effusion, Ascites, Vent... |
OMIM:115197 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Transaldolase Deficiency |
|
Telangiectasia, Biventricular hypertrophy, Edema, Coarctation of aorta, Cirrhosis, Hepatosplenome... |
ORPHA:101028 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... |
OMIM:617912 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Pectus excavatum, Talipes equinovarus, Facial palsy, Cardiomyopathy, Pes cavus, Scapular winging,... |
OMIM:617336 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... |
ORPHA:206546 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy, Intrauterine growth retardation, Short stature, Reduced subcutaneous adip... |
OMIM:618097 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Pectus excavatum, Micrognathia, Abnormality of epiphysis morphology, C... |
ORPHA:1388 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites |
ORPHA:295 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Large fleshy ears, Short nose, Short ribs, Micropenis, Anteverted nares, Low-set ear... |
OMIM:616897 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Skeletal muscle hypertrophy, Ventricular arrhythmia, Increased adipose tissue around the neck, Ab... |
ORPHA:280365 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Proximal muscle weakness in lower limbs, Loss of subcutaneous adipose tissue in lim... |
ORPHA:435660 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Short palpebral fissure, Hypoplastic right heart, Tetralogy of Fallot,... |
OMIM:601348 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Intrauterine growth retardation, Fai... |
OMIM:619048 |
Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility |
OMIM:607482 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... |
OMIM:115210 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Talipes equinovarus, Short humerus, Low-set ears, Short femur, Irregular epiphyses, Micrognathia,... |
OMIM:601560 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Pectus excavatum, Tapered finger, Long fingers, Short nose, Short toe,... |
OMIM:613458 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Abn... |
ORPHA:99886 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Nf1-Microdeletion syndrome |
|
Abnormal heart morphology, Hypertelorism |
DECIPHER:15 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Microcephaly, Sandal gap |
OMIM:251220 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation... |
ORPHA:2414 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Pectus excavatum, Abnormal cardiac septum morphology, Camptodactyly of... |
ORPHA:1937 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Ascites, Edema, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gast... |
ORPHA:90308 |
Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... |
OMIM:611556 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hydrops fetalis, Splenomegaly |
OMIM:613673 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Abnormal heart morphology, Atrial septal defect |
OMIM:617744 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Capillary leak, Abnormal heart morpholo... |
ORPHA:1041 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Nonimmune hydrops fetalis, Cardiomyopathy, Splenomegaly, Flexion contracture, Abnor... |
OMIM:608540 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pectus excavatum, Pericardial effusion, Pectus carinatum, Broad finger, Overfolded helix, Hyperte... |
OMIM:614684 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... |
OMIM:612158 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Ascites, Edema, Decreased fetal movement, Cardiomyopathy, Polyhydramnios... |
OMIM:232500 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... |
OMIM:181350 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Sandal gap, Abnormality of the outer ear, Clin... |
ORPHA:2515 |
Spinal Muscular Atrophy, Type I |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Decrease... |
OMIM:253300 |
Primary Effusion Lymphoma |
|
Abnormality of the peritoneum, Pleural effusion, Pericardial effusion |
ORPHA:48686 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... |
ORPHA:79085 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, ... |
OMIM:604286 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... |
ORPHA:435651 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Preeclampsia, Pericarditis, Polyhydramnios, Splenomegaly, Oligohydramnios, Congesti... |
ORPHA:163596 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Sparse eyelashes, Hypoketotic hypoglycemia, Failure to thrive, Sparse and... |
OMIM:610768 |
Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Cerebral hemorrhage, Azoospermia, Broad finger, Wide nose, Hypertelorism,... |
OMIM:300845 |
Cardiomyopathy, Dilated, 1J |
|
Dilated cardiomyopathy, Sensorineural hearing impairment, Congestive heart failure, Sudden cardia... |
OMIM:605362 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Hearing impairment, Congestive hea... |
ORPHA:217622 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Varicose veins, Atrial sept... |
OMIM:617300 |
Nephrosialidosis |
|
Bone-marrow foam cells, Pericardial effusion, Ascites |
OMIM:256150 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... |
OMIM:618773 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... |
ORPHA:1330 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... |
ORPHA:860 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Mitral regurgita... |
OMIM:615355 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy |
OMIM:614676 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Micrognathia, Talipes equinovarus, Rhizomelia, Hypertelorism, Small hand, Wide nasal... |
OMIM:611209 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Oligohydramnios,... |
OMIM:231100 |
Myopathy, Distal, 1 |
|
Dilated cardiomyopathy, Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed v... |
OMIM:160500 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal foot morphology, Abnormal atrioventricular conduction, Brachydac... |
ORPHA:168796 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Lipoatrophy... |
ORPHA:154 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Oligohy... |
OMIM:601927 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Prolonged QT interval, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Hydrops fetalis |
OMIM:618052 |
Cantu Syndrome |
|
Bicuspid aortic valve, Coxa valga, Depressed nasal bridge, Pericardial effusion, Metaphyseal wide... |
OMIM:239850 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Pectus excavatum, Spindle-shaped finger, Hypertelorism, Wide nasal bridge, Delayed epiphyseal oss... |
ORPHA:166024 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodac... |
OMIM:610140 |
Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... |
OMIM:615248 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... |
OMIM:617205 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology, Polyh... |
ORPHA:3405 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:614429 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Dilated cardiomyopathy, Hepatomegaly, Growth delay, Failure to thrive, Elevated circulating creat... |
OMIM:615895 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Hip flexor weakness, Car... |
ORPHA:63273 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fetal akinesia sequence, Bradycardia, Flexio... |
OMIM:618815 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Aplasia of the phalanges of the 3rd toe, Polycystic ovaries, Wide nasal b... |
ORPHA:2229 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:98855 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:615297 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Prolonged QT interval, Atrial fibrillation, Hirsutism, Insulin resistance, Elevated... |
OMIM:613327 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Premature birth, Cardiomegaly, Splenomegaly, Congestive heart failure, Hyd... |
OMIM:269920 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... |
OMIM:615373 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... |
ORPHA:563 |
Non-Distal Trisomy 10Q |
|
Pectus excavatum, Convex nasal ridge, Depressed nasal bridge, Micrognathia, Short nose, Hypertelo... |
ORPHA:1695 |
Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:98853 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... |
ORPHA:300751 |
Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:606685 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Syncope, Congestive heart failure |
OMIM:613694 |
Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Syncope, Congestive heart failure |
OMIM:613697 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cardiomyopa... |
ORPHA:86812 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Congestive heart ... |
OMIM:540000 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... |
ORPHA:75566 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder gir... |
ORPHA:34515 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pectus excavatum, Short nose, Hypertelorism, Low-set, posteriorly ro... |
ORPHA:2701 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613874 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... |
OMIM:614954 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Intrauterine growth retardation, Small for gestational age, Elevated circulating cr... |
OMIM:616733 |
Mcdonough Syndrome |
|
Prominent nose, Ventricular septal defect, Pectus excavatum, Micrognathia, Pectus carinatum, Hype... |
OMIM:248950 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Prematu... |
ORPHA:555874 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy, Vestibular dysfunction, Prelingual sensorineural hearing impairment |
OMIM:618632 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Azoospermia, Flared nostrils, Wide nos... |
ORPHA:280679 |
Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Skeletal myopathy, Talipes equinovarus, Endo... |
OMIM:302060 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... |
OMIM:608751 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, External genital hypoplasia, Hypogonadism, Atrial ... |
OMIM:615981 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Sensorineural... |
OMIM:617713 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Pectus excavatum, Depressed nasal bridge, Micrognathia, Double outlet ... |
OMIM:179613 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Left ventricular systolic dysfunction, C... |
OMIM:613156 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
Cardiomyopathy, Dilated, 1Dd |
|
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death |
OMIM:613172 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fulminant hepatic failure, Hepatic necrosis,... |
OMIM:231530 |
Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
Carvajal Syndrome |
|
Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis, Congestive heart failure |
ORPHA:65282 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Micrognathia, Facial palsy, Type 1 fibers relatively smaller th... |
OMIM:300580 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Hepatomegaly, Myopathy, Nonimmune hydrops fetalis, Skeletal muscle atroph... |
ORPHA:367 |
Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Congestive heart failure, Hydrops fetalis |
OMIM:236750 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... |
OMIM:618164 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cherry red spot of the macula, Ascites, Bone-marrow foam c... |
OMIM:256550 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Mental Retardation, Buenos Aires Type |
|
Hypospadias, Prominent nose, Pectus excavatum, Protruding ear, Pectus carinatum, Hypertelorism, W... |
OMIM:249630 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Maternal diabetes, Fetal distress, Reduced ejection fraction, Paroxysmal su... |
ORPHA:45452 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... |
OMIM:115200 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Pes planus, Rimmed vacuoles, Muscular dyst... |
ORPHA:263494 |
Craniofaciofrontodigital Syndrome |
|
Pectus excavatum, Depressed nasal bridge, Palmoplantar cutis laxa, Abnormal heart morphology, Sho... |
OMIM:114620 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Dilated cardiomyopathy, Triangular tongue, Skeletal muscle atrophy, Elevated circulating creatine... |
OMIM:616827 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Pericardial effusion, Ascites, Edema, Decreased fetal movement, Hepatosplenomegaly,... |
OMIM:608776 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Fasting hypoglycemia, Increased circulating T4 level, De... |
ORPHA:171706 |
Pericardial Effusion, Chronic |
|
Constrictive pericarditis, Retinal arteriolar tortuosity, Pericardial effusion |
OMIM:260900 |
Coronary Arterial Fistula |
|
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Vascular dila... |
ORPHA:2041 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant d... |
ORPHA:280356 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Left ventricular systoli... |
ORPHA:206559 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hyperammonemia, Jaundice, Ventricular septal defect, Atrial septal defect... |
ORPHA:26793 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Prominent nose, Micrognathia, Small hand, Cardiomyopathy, Short foot, Metaphyseal sclerosis, Micr... |
OMIM:616051 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Ascites, Premature birth, Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis |
ORPHA:2123 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... |
OMIM:613873 |
Cardiomyopathy, Dilated, 1X |
|
Dilated cardiomyopathy |
OMIM:611615 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Neonatal hypoglycemia, Fasting hyperinsulinemia, Hyperammonemia, Decrease... |
ORPHA:71212 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, Micrognathia, EMG: myopathic ab... |
ORPHA:171442 |
Congenital Enterovirus Infection |
|
Myocarditis, Fetal ascites, Fetal distress, Pericardial effusion, Premature birth, Decreased feta... |
ORPHA:292 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... |
ORPHA:293964 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Short femur, Talipes equinovarus, Wide nose, Rhizomelia, Abnormality of the pinna, S... |
OMIM:607143 |
Familial Dilated Cardiomyopathy |
|
Right ventricular dilatation, Abnormal circulating creatine kinase concentration, Atrial fibrilla... |
ORPHA:217607 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy... |
OMIM:602541 |
Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Pectus excavatum, Depressed nasal bridge, Abnormal sternum morpholog... |
OMIM:613224 |
Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Ascites, Cardiomegaly, Congestive heart failure, Myocardi... |
OMIM:253250 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic scapulae, Elbow flexion contracture, Humeroradial synostosi... |
ORPHA:93333 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Intrauterine growth retardation, Bradycardia, Hyperalaninemia, Left ventricular hypertrophy, Seco... |
OMIM:614654 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Highly arched eyebrow, Ventricular septal defect, Double outlet right ventricle, Patent ductus ar... |
OMIM:618316 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Elevated... |
OMIM:613759 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hypertension, Type II diabetes mellitus, Childhood-onset truncal obesit... |
ORPHA:71529 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Increased vari... |
OMIM:612937 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy, Vertigo |
OMIM:614458 |
Gordon Syndrome |
|
Decreased muscle mass, Pectus excavatum, Talipes, Finger syndactyly, Hearing impairment, Clinodac... |
ORPHA:376 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... |
OMIM:608758 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:619003 |
Isolated Succinate-Coq Reductase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... |
ORPHA:3208 |
Thanatophoric Dysplasia Type 1 |
|
Short greater sciatic notch, Depressed nasal bridge, Abnormal sacroiliac joint morphology, Bowing... |
ORPHA:1860 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture, Elev... |
OMIM:300718 |
Scimitar Syndrome |
|
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... |
ORPHA:185 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613876 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Ascites, Failure to thrive, Depletion of mitochondrial DNA... |
OMIM:251880 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Anomalous branches of internal carotid artery, G... |
ORPHA:363705 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Hepatomegaly, Increased serum iron, Hypogonadotropic hypogonadism, Cardio... |
OMIM:602390 |
Frontoocular Syndrome |
|
Pectus excavatum, Micrognathia, Hypotelorism, Prominent nasal bridge, Posteriorly rotated ears, P... |
OMIM:605321 |
Phenobarbital Embryopathy |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Hypertelorism, Brac... |
ORPHA:1919 |
Craniofrontonasal Dysplasia |
|
Hypospadias, Broad hallux phalanx, Congenital pseudoarthrosis of the clavicle, Finger syndactyly,... |
ORPHA:1520 |
Nemaline Myopathy 3 |
|
Dilated cardiomyopathy, Limb muscle weakness, Slender build, Facial palsy, Mildly elevated creati... |
OMIM:161800 |
Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:613881 |
Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:611880 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Finger syndactyly, Anomalous p... |
ORPHA:392 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, Ca... |
OMIM:201475 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Persistent left superior vena cava, Double outlet right ventricle, Downslanted palpebral fissures... |
ORPHA:3304 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
Myopathy, Myofibrillar, 3 |
|
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Cardiomyopathy, Hyporef... |
OMIM:609200 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Increased QRS voltage, Prolonged QTc interval, EMG: myopathic abnormal... |
OMIM:619040 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... |
OMIM:608099 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... |
OMIM:618845 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Broad nasal tip, Tapered finger, Hypertelorism, Wide nasal bridge, Pes planus, Posteriorly rotate... |
OMIM:618147 |
Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Hypoglycemia, Cardiomegaly, Bradycardia, Tetral... |
OMIM:601005 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Protruding ear, Horizontal crus of helix, Overf... |
OMIM:618619 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemi... |
ORPHA:276580 |
Hemochromatosis Type 2 |
|
Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Abnormality of iron homeost... |
ORPHA:79230 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis |
OMIM:122850 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hepatomegaly, Hypoglycemia, Ventricular tachycardia, Atriovent... |
OMIM:212138 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excavatum, Mitral valve prolapse, ... |
OMIM:616564 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hypospadias, Bifid scrotum, Talipes equinovarus, Hearing impairment, Low hanging columella, Penos... |
OMIM:619148 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Pectus excavatum, Broad nasal tip, Wide nasal bridge, Short palm, Clinodactyly, Microcephaly |
ORPHA:73273 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Absent Achilles reflex, Lower limb amyotrophy, Hip flexo... |
ORPHA:602 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Acrocapitofemoral Dysplasia |
|
Pectus excavatum, Genu varum, Cone-shaped epiphysis, Pectus carinatum, Short thorax, Coxa vara, C... |
ORPHA:63446 |
Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Hypertrichosis, Skeleta... |
ORPHA:528 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... |
ORPHA:2299 |
Atrial Fibrillation, Familial, 10 |
|
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... |
OMIM:614022 |
Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... |
OMIM:614980 |
Hadziselimovic Syndrome |
|
Ventricular septal defect, Ptosis, Failure to thrive, Ventricular hypertrophy, Epicanthus, Atrial... |
OMIM:612946 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
Cardiomyopathy, Dilated, 3B |
|
Dilated cardiomyopathy |
OMIM:302045 |
Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy |
OMIM:615235 |
Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy |
OMIM:612877 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy |
OMIM:613642 |
Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy |
OMIM:613252 |
Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy |
OMIM:613286 |
Cardiomyopathy, Dilated, 1Z |
|
Dilated cardiomyopathy |
OMIM:611879 |
Cardiomyopathy, Dilated, 1W |
|
Dilated cardiomyopathy |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Dilated cardiomyopathy |
OMIM:613122 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... |
OMIM:208530 |
Femoral-Facial Syndrome |
|
Micrognathia, Rib fusion, Talipes equinovarus, Long penis, Short nose, Microtia, Low-set ears, Co... |
ORPHA:1988 |
Cardiomyopathy, Dilated, 2C |
|
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction |
OMIM:618189 |
Atelosteogenesis, Type I |
|
Distal tapering femur, Talipes equinovarus, Short metatarsal, Short nose, 11 pairs of ribs, Short... |
OMIM:108720 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, Intracranial hemorrhage, Fetal akinesia sequence, Neonat... |
ORPHA:85212 |
Chromosome 3Q29 Deletion Syndrome |
|
Pectus excavatum, Pectus carinatum, Tapered finger, Long fingers, Macrotia, Prominent nasal bridg... |
OMIM:609425 |
Martsolf Syndrome 1 |
|
Slender ulna, Talipes equinovarus, Micropenis, Short toe, Short phalanx of finger, Micrognathia, ... |
OMIM:212720 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small f... |
ORPHA:324575 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Growth delay, Failure to thrive, Atrioventricular block, Glucose intolerance, Impaired glucose to... |
OMIM:614407 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Ventricular tachycardia, Elevated... |
OMIM:600649 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemi... |
ORPHA:276575 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Myopathy, Increased muscle lipid content, Short stature, Elevated circulating creat... |
OMIM:610717 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect, Congenital diaphr... |
DECIPHER:39 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hirsutism, Short stature, Insulin resistance, Lipodystrophy, Reduced subcutaneous a... |
OMIM:612526 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... |
ORPHA:85451 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Persistent left sup... |
OMIM:618775 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle |
OMIM:618254 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Salih Myopathy |
|
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Facial pals... |
OMIM:611705 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Pectus excavatum, Myopathy, Hypoglycosylation of alpha-dystroglycan, Musc... |
ORPHA:272 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Restrictive cardiomyopathy, Endocardial fibroela... |
OMIM:619313 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Talipes equinovarus, Facial diplegia, Long fingers, Generalized amyotrophy, Faci... |
ORPHA:169186 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Hypertension, Increased adipose tissue, Hypertrophic cardiomyopathy, Ragg... |
ORPHA:1349 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hypoglycemia, Decreased serum insulin-like growth factor 1, Short stature... |
OMIM:614921 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Highly arched eyebrow, Type II diabetes mellitus, ... |
ORPHA:401923 |
Pentasomy X |
|
Micrognathia, Hypertelorism, Small hand, Wide nasal bridge, Low-set, posteriorly rotated ears, Sh... |
ORPHA:11 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... |
OMIM:255160 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Single umbilical art... |
OMIM:220210 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Hypertension, Ventricular septal defect, Pectus excavatum, Posterior rib fusion, Pulmonary arteri... |
OMIM:608406 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Cardiomyopathy |
OMIM:208750 |
Pectus Excavatum, Macrocephaly, Short Stature, And Dysplastic Nails |
|
Relative macrocephaly, Pectus excavatum, Macrocephaly, Depressed nasal bridge |
OMIM:600399 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... |
ORPHA:3092 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Pectus excavatum, Pectus carinatum, Tapered finger, Large hands, Wide nose, Hypertelorism |
ORPHA:276630 |
Myopathy, Centronuclear, 5 |
|
Dilated cardiomyopathy, Micrognathia, Facial palsy, Hip contracture |
OMIM:615959 |
Cardiac Valvular Defect, Developmental |
|
Tricuspid atresia, Mitral valve prolapse, Arteria lusoria, Edema, Mitral stenosis, Tricuspid valv... |
OMIM:212093 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, EMG: myopathic abnormalities, ... |
OMIM:300257 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Pectus excavatum, Micrognathia, Prominent nasal bridge, Arachnodactyly, Atrial se... |
ORPHA:776 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Hypertelorism, Cardiomegaly, Prominent nasal bridge, Tricuspid regurgi... |
OMIM:618652 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated circulat... |
OMIM:615418 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Splenomegaly |
ORPHA:2204 |
Nemaline Myopathy 1 |
|
Pectus excavatum, Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, ... |
OMIM:609284 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, P... |
ORPHA:79159 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Ventricular septal defect, Patent ductus arteriosus, Decreased liver function, Olig... |
OMIM:617021 |
Atelosteogenesis Type Ii |
|
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ... |
ORPHA:56304 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Calcaneovalgus deformity, Pes planus, Genu recurvatum, Bulbous nose, Pulmonary ins... |
ORPHA:230851 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Pectus carinatum, Hypertelorism, Wide nasal bridge,... |
ORPHA:261295 |
Mitochondrial Trifunctional Protein Deficiency |
|
Dilated cardiomyopathy, Myopathy, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:609015 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... |
OMIM:607685 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Hallux valgus, Talipes equinovarus, Spatulate thumbs, Pes planus, 11 pairs... |
OMIM:245600 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Intrauterine growth retardation, Bradycardia |
OMIM:616276 |
Sialidosis Type 2 |
|
Hepatomegaly, Skeletal muscle atrophy, Ascites, Splenomegaly, Flexion contracture, Pedal edema, H... |
ORPHA:87876 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... |
OMIM:613751 |
Alstrom Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Hypertension, Decreased HDL cholesterol concentration, Chro... |
OMIM:203800 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Hallux valgus, Pectus excavatum, Short middle phalanx of finger, Micrognathia, Short 5th toe, Tal... |
OMIM:211920 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Pectus excavatum, Short 5th toe, Short 2nd toe, Talipes equinovarus, Labial hypoplasia, Hip dislo... |
ORPHA:1326 |
Burn-Mckeown Syndrome |
|
Bilateral choanal atresia, Short nose, Hypertelorism, Prominent nasal bridge, Wide nasal bridge, ... |
ORPHA:1200 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Pectus excavatum, Pectus carinatum, Overfolded helix, Cervical ribs, M... |
OMIM:609654 |
Endocardial Fibroelastosis |
|
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy, Cryptorchidism |
OMIM:226000 |
Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... |
ORPHA:59135 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Micrognathia, Abnormality of epiphysis morphology, Bowing of the long ... |
ORPHA:93267 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Conductive hearing impairment, Pectus excavatum, Short 5th metacarpal, Short nose, Perimembranous... |
OMIM:617877 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Lymphadenopathy, Splenomegaly, Absent natural killer cells, Hepatosplenomegaly, Vasc... |
ORPHA:2442 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Monkey wrench femoral neck, 2-3 toe syndactyly, Pes planus, Anteverted nares, Microretrognathia, ... |
OMIM:618870 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death |
OMIM:276822 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Portal fibrosis, Coarctation of aorta, Pulmonic stenosis, Decreased live... |
OMIM:614300 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, 2-4 toe syndactyly, Low ... |
OMIM:272440 |
Mcdonough Syndrome |
|
Underdeveloped nasal alae, Pectus excavatum, Prominent nose, Aplasia/Hypoplasia of the abdominal ... |
ORPHA:2471 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... |
OMIM:613838 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, Leukocytosis, Hyperglycemia, ST segment depression, P... |
ORPHA:90065 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Hypoketotic hypoglycemia, Mitral regurgitation,... |
ORPHA:746 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Decreased carnitine level in liver, Myopathy, Hypoglyc... |
OMIM:212140 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Hypergonadotro... |
OMIM:615084 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Ventricular septal defect, Pulmonary artery atresia, Hepatic fibrosis |
ORPHA:306550 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Hypospadias, Pectus excavatum, Micrognathia, Skeletal muscle atrophy, Ulnar deviation of finger, ... |
ORPHA:2013 |
Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Pectus excavatum, Congenital diaphragmatic hernia, Long fingers, Hypertelorism, Abn... |
OMIM:614294 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Protruding ear, Short long bone,... |
ORPHA:2256 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Prominent nose, Pectus excavatum, Prominent nasal bridge, Macrocephaly, Hearing abnormality, Prot... |
ORPHA:3270 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension, Maternal diabetes, Hirsutism, Loss of subcutaneous adipose tissue in limbs, Decreas... |
OMIM:604367 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Myopathy, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Short stature, Elevated c... |
OMIM:232400 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Hypoglycemia, Short stature, Elevated circulating creatine kinase concent... |
OMIM:618120 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Low-set ears, Pectus excavatum, Hypertelorism, Posteriorly rotated ears |
OMIM:619548 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Metaphyseal cupping, Depressed nasal bridge, Wide nose, Short nose, Pulmonary arter... |
OMIM:613320 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mi... |
ORPHA:1354 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Pectus excavatum, Arachnodactyly, Pes planus, Transposition of the gre... |
ORPHA:261243 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
Aarskog-Scott Syndrome |
|
Pectus excavatum, Talipes, Hypertelorism, Small hand, Wide nasal bridge, Pes planus, Genu recurva... |
ORPHA:915 |
Insulin-Like Growth Factor I, Resistance To |
|
Ventricular septal defect, Pectus excavatum, Micrognathia, Small hand, Wide nasal bridge, Clinoda... |
OMIM:270450 |
Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excavatum, Depressed nasal bridge,... |
OMIM:610733 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Palmoplantar keratoderma, Cardiomyocyte hypertro... |
OMIM:605676 |
Carcinoid Syndrome |
|
Right ventricular failure, Facial telangiectasia, Myopathy, Palpitations, Hepatic necrosis, Tricu... |
ORPHA:100093 |
Polymyositis |
|
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal muscle fiber morpholo... |
ORPHA:732 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect, Neutropenia, Lymphopenia |
OMIM:614868 |
Dk1-Cdg |
|
Dilated cardiomyopathy, Short stature, Failure to thrive, Cardiomyocyte hypertrophy, Interstitial... |
ORPHA:91131 |
Noonan Syndrome 7 |
|
Hypertrophic cardiomyopathy, Large earlobe, Pectus excavatum, Shield chest, Depressed nasal bridg... |
OMIM:613706 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Ptosis, Telecanthus, Downslanted palpebral fissures, Patent ductus art... |
OMIM:619189 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Hypoketotic hypoglycemia, Excessive insulin r... |
ORPHA:276556 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Sensorineural hearing impai... |
ORPHA:440354 |
Fragile X Syndrome |
|
Pectus excavatum, Macroorchidism, postpubertal, Mitral valve prolapse, Congenital macroorchidism,... |
OMIM:300624 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Protruding ear, Hypertelorism... |
ORPHA:329224 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypospadias, Pectus excavatum, Micrognathia, Depressed nasal bridge, Tapered finger, Long fingers... |
OMIM:616734 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertension, Myopathy, Insulin resistance, Reduced subcutaneous adipose tissue, Re... |
ORPHA:363400 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hypertension, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Dia... |
ORPHA:79084 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Ptosis, Epicanthus, Transposition of the great arteries, Atrial septal... |
ORPHA:1913 |
X-Linked Intellectual Disability, Abidi Type |
|
Pectus excavatum, Prominent nasal bridge, Hearing impairment, Protruding ear, Decreased testicula... |
ORPHA:85273 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left atrial enlargement, Left ventricular no... |
OMIM:619424 |
Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Systolic heart murmur, Bidirectional shunt, Right bundle branch block,... |
ORPHA:439 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Jaundice, Global systolic dys... |
ORPHA:57777 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Amelia, Ventricular septal defect, Short femur, Low-set ears, Foot oligodactyly |
OMIM:601357 |
Cataract-Hypertrichosis-Intellectual Disability Syndrome |
|
Pectus excavatum, Depressed nasal bridge |
ORPHA:1375 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypospadias, Absent tibia, Bifid scrotum, Talipes equinovarus, Torticollis, Short metatarsal, Ove... |
OMIM:609945 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Mitral regurgitation, Hypertelorism, Macroceph... |
ORPHA:83473 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... |
OMIM:232700 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Leg muscle stiffness, Diabetes mellitus, Distal lower limb muscle weakness, Supra... |
ORPHA:320360 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Micropenis, Supernumerary ribs, Absent thum... |
OMIM:612447 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Micrognathia, Short middle phalanx of finger, Talipes equinovarus, Wide nasal bridge... |
OMIM:612626 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Distal arthrogryposis, Cachexia, Hypoglycemia, Myopathy, Skeletal muscle atrophy, E... |
ORPHA:42 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Ant... |
OMIM:608836 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Macrotia, Cardiomegaly, Macrocephaly, Congestive heart failure |
OMIM:300886 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... |
ORPHA:1329 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Hallux valgus, Ventricular septal defect, Pectus excavatum, Micrognathia,... |
OMIM:618348 |
Congenital Gerbode Defect |
|
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Vascular dilatation, H... |
ORPHA:99095 |
Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Decr... |
OMIM:255320 |
Shashi-Pena Syndrome |
|
Highly arched eyebrow, Atrial septal defect, Ptosis, Macrocephaly |
OMIM:617190 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy, Persistent left s... |
ORPHA:477817 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, D... |
ORPHA:231226 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Gener... |
ORPHA:352447 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Ohdo Syndrome, Sbbys Variant |
|
Dilated cardiomyopathy, Micrognathia, Depressed nasal bridge, Posteriorly rotated ears, Bulbous n... |
OMIM:603736 |
Tatton-Brown-Rahman Syndrome |
|
Narrow palpebral fissure, Atrial septal defect, Blepharophimosis, Macrocephaly |
OMIM:615879 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary he... |
OMIM:615285 |
Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Insulin-resistant diabetes mellitus, Splenomegaly, Lipoatrophy, Diab... |
ORPHA:79083 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Failure to thrive, Bradycardia,... |
OMIM:616201 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Macroglossia, Decreased circulating T4 level, Bradycardia, Elevated ... |
ORPHA:95717 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Neutropenia, Pancytopenia, Abnormal ... |
ORPHA:398124 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, Thrombocytopenia, Elevated hepatic... |
ORPHA:99901 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Dilated cardiomyopathy, Intrauterine growth retardation, Short stature, Insulin resistance, Abnor... |
OMIM:616541 |
Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Cherry red spot of the macula,... |
OMIM:230500 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating aldosterone level, Intrauterine growth retardation, Decreased... |
ORPHA:320 |
Ivic Syndrome |
|
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Rectovaginal fistula, Hypoplasia of... |
OMIM:147750 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Pectus excavatum, Posteriorly rotated ears, Pulmonic stenosis, Atrial ... |
OMIM:615102 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Pericardial effusion, Ascites, Angioedema, Splenomegaly, Abnormal heart valve morph... |
ORPHA:36412 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy, Microcephaly |
OMIM:212080 |
Acrocraniofacial Dysostosis |
|
Triphalangeal thumb, Short 1st metacarpal, Anteverted nares, Choanal atresia, Conductive hearing ... |
ORPHA:949 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Elevated hepatic transaminase, Abnormal heart morphology, ... |
ORPHA:26791 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Prolonged QT interval, Noncompaction ca... |
OMIM:610198 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Nonimmune hydrops fetalis, Premature birth, Neonatal death, Cardiomyopathy, Decreased liver function |
OMIM:618839 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Pectus excavatum, Cone-shaped epiphysis, Hypotelorism, Abnormality of finger, Abnormality of the ... |
ORPHA:2511 |
16P11.2P12.2 Microduplication Syndrome |
|
Hypospadias, Pectus excavatum, Microcephaly |
ORPHA:261204 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Mitral atresia, Doub... |
OMIM:306955 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity, Ventricular septal defect, Ventricular septal hypertrophy, Microcephaly |
OMIM:614947 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Narrow palpebral fissure, Truncus arteriosus, Failure to thrive, Doubl... |
ORPHA:3426 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Neutropenia, Ascites, Iron deficiency anemia, Double outlet right ventricle, Abnorm... |
ORPHA:1667 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Telangiectasia, Hepatomegaly, Increased serum iron, Hepatocellular carcinoma,... |
OMIM:235200 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... |
OMIM:614262 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Growth delay, Failure to thrive, Decreas... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Growth delay, Failure to thrive, Decreas... |
ORPHA:71526 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increas... |
ORPHA:369 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Premature birth, Neonatal death, Decrease... |
OMIM:618835 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, EMG: myopathic abnor... |
OMIM:609286 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Hypoplastic Left Heart Syndrome |
|
Maternal diabetes, Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left he... |
ORPHA:2248 |
Otopalatodigital Syndrome, Type I |
|
Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Short nose, Absent frontal ... |
OMIM:311300 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart |
ORPHA:2476 |
Faciothoracogenital Syndrome |
|
Pectus excavatum, Micrognathia, Prominent scrotal raphe, Anteverted nares, Shawl scrotum, Glandul... |
OMIM:227320 |
Catel-Manzke Syndrome |
|
Dextrocardia, Ventricular septal defect, Pectus excavatum, Micrognathia, Talipes equinovarus, Pec... |
OMIM:616145 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Ventricular septal defect, Micrognathia, Depressed nasal bridge, Short nose, Hype... |
ORPHA:261120 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of skeletal muscle fiber size, Myopathy, L... |
ORPHA:2348 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Fetal akinesia sequence, Torticollis, Cardiomegaly, Oligohydramnios, O... |
OMIM:617022 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis, Microcephaly |
OMIM:610181 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatos... |
OMIM:618805 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... |
ORPHA:1686 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Pectus excavatum, Depressed nasal bridge, Micrognathia, Patellar aplas... |
ORPHA:96167 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:619371 |
Immunodeficiency 52 |
|
Death in infancy, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, ... |
OMIM:617514 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Short nose, Pulmonary arterial hypertension, Hypertelorism, Posteriorly ... |
OMIM:300887 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Ascites, Biliary tract obstruction, Pulmonary arterial hypert... |
ORPHA:77259 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hepatocellular necrosis, Failure to thrive, Cardiomegaly, Anisocytosis, Chronic hem... |
OMIM:618278 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Pectus excavatum, Supravalvular aortic stenosis, Proximal placement of... |
OMIM:618624 |
Aicardi-Goutieres Syndrome 9 |
|
Increased blood pressure, Hepatosplenomegaly, Acute pancreatitis, Hemolytic anemia, Portal hypert... |
OMIM:619487 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Decreased fetal movement, Cholelithiasis, Patent ductus arteriosus... |
OMIM:614886 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Pectus excavatum, Broad nasal tip, 2-3 toe syndactyly, Tapered finger, Flared nos... |
ORPHA:284180 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus |
OMIM:617044 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Small for gestational age, Abnormal heart morphology, Bilateral ptosis, Up... |
ORPHA:352490 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Hepatomegaly, Mitral regurgitation, Left ventricular systolic dysfunction... |
OMIM:619167 |
Primary Lipodystrophy |
|
Hypertension, Myopathy, Type II diabetes mellitus, Skeletal muscle hypertrophy, Hyperlipidemia, I... |
ORPHA:90970 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hepatosplenomeg... |
ORPHA:231214 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, 11 pairs of ribs, Micropenis, Absent knee epiphyses, Short humerus, Femoral bowi... |
OMIM:210710 |
Hypertelorism And Tetralogy Of Fallot |
|
Narrow palpebral fissure, Epicanthus, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of... |
OMIM:239711 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... |
OMIM:108900 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... |
OMIM:109730 |
Sandhoff Disease |
|
Hepatomegaly, Cherry red spot of the macula, Failure to thrive, Splenomegaly, Macrocephaly, Conge... |
ORPHA:796 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hypospadias, Hallux valgus, 2-3 toe syndactyly, Hearing impairment, Low hanging columella, Broad ... |
OMIM:618659 |
Tarp Syndrome |
|
Pectus excavatum, Micrognathia, Talipes equinovarus, Postaxial polydactyly, Hypertelorism, Wide n... |
OMIM:311900 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral regurgitation, Mitral valve calcification, Short stature, Glucose intoleranc... |
OMIM:619127 |
Subaortic Stenosis--Short Stature Syndrome |
|
Pectus excavatum, Shield chest, Broad finger, Short nose, Broad toe, Wide nasal bridge, Small han... |
OMIM:271960 |
Coffin-Siris Syndrome 10 |
|
Ventricular septal defect, Epicanthus, Microcephaly |
OMIM:618506 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation |
OMIM:615184 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Leukocytosis, Neutropenia, Small for gestational age, Peritonitis, Hyperglyc... |
ORPHA:391673 |
Noonan Syndrome With Multiple Lentigines |
|
Hypospadias, Aplasia/Hypoplasia of the abdominal wall musculature, Hypertrophic cardiomyopathy, A... |
ORPHA:500 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Premature birth, Patent ductus arteriosus, ... |
ORPHA:1880 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Dilated cardiomyopathy, Short clavicles, Mitral regurgitation, Down-sloping shoulders, Hypergonad... |
OMIM:212112 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Pectus excavatum, Depressed nasal bridge, Metatarsus valgus, Talipes e... |
ORPHA:261236 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:614299 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Nasodigitoacoustic syndrome |
|
Enlarged epiphyses, Short 3rd metacarpal, Depressed nasal bridge, Rounded epiphyses, Hyperteloris... |
OMIM:255980 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Myocardial infarct... |
OMIM:610947 |
Eosinophilia, Familial |
|
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia |
OMIM:131400 |
Hamamy Syndrome |
|
Pectus excavatum, Micrognathia, Mitral regurgitation, Tapered finger, Long fingers, Hypertelorism... |
OMIM:611174 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Hypertension, Myopathy, Insulin resistance, Insulin-resistant diabetes mellitus, Ab... |
ORPHA:79086 |
Myopathy, Distal, 4 |
|
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Distal lower lim... |
OMIM:614065 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Pectus excavatum, Large fleshy ears, Overfolded helix, Hypertelorism, Arachnodactyly, Pes cavus, ... |
OMIM:619092 |
Saul-Wilson Syndrome |
|
Pectus excavatum, Convex nasal ridge, Micrognathia, Talipes equinovarus, Pectus carinatum, Short ... |
OMIM:618150 |
8Q12 Microduplication Syndrome |
|
Highly arched eyebrow, Ventricular septal defect, Epicanthus, Telecanthus, Long palpebral fissure... |
ORPHA:228399 |
Noonan Syndrome 2 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excavatum, Micrognathia, Palmoplan... |
OMIM:605275 |
Megalencephaly |
|
Macroorchidism, Long penis, Wide nasal bridge, Genu valgum, Atrial septal defect, Macrocephaly, D... |
ORPHA:2477 |
Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Pericardial effusion, Abnormal pulmonary vein morphology, Pulmonary ed... |
ORPHA:199241 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Pectus excavatum, Limb undergrowth, Microcephaly, Proptosis, Massively thickened long bone cortic... |
OMIM:122900 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Pectus excavatum, Thin ribs, Wide nose, Hypertelorism, Cardiomegaly, Long foot, Arachnodactyly, M... |
ORPHA:2463 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Wide nose, Hypertelorism, Pulmonic stenosis, Hearing i... |
ORPHA:251076 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Highly arched eyebrow, Ventricular septal defect, Laterally extended eyebrow, Upslanted palpebral... |
OMIM:600987 |
Endocardial Fibroelastosis |
|
Micrognathia, Endocardial fibroelastosis, Restrictive cardiomyopathy, Low-set, posteriorly rotate... |
ORPHA:2022 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Ventricular septal defect, Sparse eyelashes, Epicanthus, Downslanted palpebral fissures, Sparse e... |
OMIM:616901 |
X-Linked Intellectual Disability, Hedera Type |
|
Absent Achilles reflex, Hyporeflexia of lower limbs, Pes planus, Left ventricular hypertrophy, Hy... |
ORPHA:93952 |
Prune Belly Syndrome |
|
Urethral valve, Pectus excavatum, Talipes equinovarus, Congenital posterior urethral valve, Pectu... |
OMIM:100100 |
3Q13 Microdeletion Syndrome |
|
Hypertelorism, Wide nasal bridge, Macrocephaly, Narrow chest, Anteverted nares, Cryptorchidism, H... |
ORPHA:1621 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Progressive microcephaly, Flexion contracture, Inguinal hernia, Microcephaly |
OMIM:614498 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do... |
OMIM:605376 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Broad hallux phalanx, Abnormal muscle fiber morphology, 1-3 toe syndactyly, Broad th... |
OMIM:175700 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect, Polyhydramnios |
ORPHA:3469 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Dilated cardiomyopathy, Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers re... |
OMIM:255310 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Phocomelia, Hypoplasia of the radius, Syndactyly, Short humerus, Finger clin... |
OMIM:142900 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Hepatic cysts, Stillbirth, Polyhydramnios, Atrial septal defect |
OMIM:263630 |
Familial Thyroid Dyshormonogenesis |
|
Congenital hypothyroidism, Goiter, Umbilical hernia, Neonatal hyperbilirubinemia, Increased radio... |
ORPHA:95716 |
Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma... |
OMIM:102200 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypertelorism, Low-set, posteriorly rotated ears, Hypoplastic left hea... |
ORPHA:2772 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Pectus excavatum, Toe syndactyly, Depressed nasal bridge, Pectus carinatum, Short ... |
ORPHA:1327 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, 2-3 toe syndactyly, Ventricular arrhythmia, Cl... |
ORPHA:37553 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormal foot morphology, Increased head circumference, Upper limb undergrowth, Micrognathia, Sma... |
ORPHA:94068 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Ventricular septal defect, Narrow nose, Pectus excavatum, Long nose, Congenital diap... |
OMIM:617602 |
Pituitary Gigantism |
|
Hypertrophic cardiomyopathy, Type II diabetes mellitus, Increased serum insulin-like growth facto... |
ORPHA:99725 |
Grange Syndrome |
|
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial... |
ORPHA:79094 |
Acrocraniofacial Dysostosis |
|
Metatarsus adductus, Pectus excavatum, Micrognathia, Abnormal auditory evoked potentials, Conduct... |
OMIM:201050 |
Teebi-Shaltout Syndrome |
|
Underdeveloped nasal alae, Ventricular septal defect, Broad nasal tip, Pectus excavatum, Metatars... |
OMIM:272950 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hypoglycemia, Intrauterine growth retardation, Hyperglutaminemia, Elevated circulating creatine k... |
OMIM:619355 |
Vici Syndrome |
|
Dilated cardiomyopathy, Myopathy, Micrognathia, Hypertelorism, Cardiomyopathy, Left ventricular h... |
OMIM:242840 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Splenomegaly,... |
OMIM:608971 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Short stature, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed p... |
OMIM:616033 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ... |
OMIM:619598 |