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 |
|
Double outlet right ventricle, Failure to thrive, Pulmonic stenosis, Tetralogy of Fallot, Ventric... |
OMIM:601127 |
7P22.1 Microduplication Syndrome |
|
Macrocephaly, Hypertelorism, Abnormality of the outer ear, Cryptorchidism, Abnormal heart morphology |
ORPHA:314034 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Premature birth, Ventricular septal defect, Oligohydramnio... |
ORPHA:1909 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive ca... |
OMIM:619433 |
Noonan Syndrome 11 |
|
Low-set ears, Bulbous nose, Pectus excavatum, Atrial septal defect, Relative macrocephaly, Pulmon... |
OMIM:618499 |
Transaldolase Deficiency |
|
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Coarctation of aorta, Biven... |
ORPHA:101028 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy,... |
ORPHA:206546 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Reduced subcutaneous adipose tissue, Decreased body weight, Short stature, Microcephaly, Dilated ... |
OMIM:618097 |
Catel-Manzke Syndrome |
|
Pectus excavatum, Atrial septal defect, Clinodactyly of the 5th finger, Radial deviation of the 2... |
ORPHA:1388 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Lipodystr... |
OMIM:615238 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Supraventricular arrhythmia, Reduced subcutaneous adipose tissue, Hepatomegaly, Pancreatitis, Lip... |
ORPHA:280365 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hypertrophic cardiomyopathy, Hydrops fetalis, Ascites |
ORPHA:295 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... |
OMIM:611556 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Short nose, Thoracic hypoplasia, Cardiomegaly, Flexion contracture, Sh... |
OMIM:616897 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Intrauterine growth retardation, Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, H... |
OMIM:619048 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... |
ORPHA:99886 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Decreased adiponectin lev... |
ORPHA:435660 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... |
OMIM:115197 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... |
OMIM:115210 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Short palpebral fissure, Hypoplastic right heart, Tetralogy of Fallot, Ventricular septal defect,... |
OMIM:601348 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... |
ORPHA:2414 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... |
OMIM:611880 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Pectus excavatum, Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhiz... |
OMIM:601560 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... |
OMIM:607482 |
Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Microcephaly, Dilated cardiomyopathy, Sandal gap |
OMIM:251220 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Chromosome 16P13.3 Duplication Syndrome |
|
Protruding ear, Pectus excavatum, Atrial septal defect, Bulbous nose, Short toe, Pes cavus, Short... |
OMIM:613458 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Pectus excavatum, Camptodactyly of finger, Brachydactyly, Ven... |
ORPHA:1937 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Atrial septal defect, Peripheral arteriovenous fistula, Hydrops fetalis, Pulmonary ... |
ORPHA:90308 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Twin-to-twin transfusion, Lymphedema, Incr... |
ORPHA:1041 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Nonimmune hydrops fetalis, Abnormality of the am... |
OMIM:608540 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Arthrogryposis m... |
OMIM:232500 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Abnormal pinna morphology, Pectus excavatum, Hypertelorism, Micropenis, Overfolded helix, Small h... |
OMIM:614684 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion, Abnormality of the peritoneum |
ORPHA:48686 |
Microcephaly-Cardiomyopathy Syndrome |
|
Clinodactyly of the 5th finger, Microcephaly, Ventricular septal defect, Dilated cardiomyopathy, ... |
ORPHA:2515 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Pancreatitis, Decreased adiponectin level, Skeletal muscle hypertro... |
ORPHA:435651 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... |
ORPHA:79085 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Preeclampsia, Polyhydramnios, Pericarditis, Oligohyd... |
ORPHA:163596 |
Cardiomyopathy, Dilated, 1J |
|
Sensorineural hearing impairment, Abnormal left ventricular function, Sudden cardiac death, Dilat... |
OMIM:605362 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypertelorism, Talipes equinovarus, Microtia, Small hand, Left ventricular hypertrophy, Hypospadi... |
OMIM:611209 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Recurrent infections of the middle ear, Dilated cardiomyopathy, Hearing impairment, Abnormal card... |
ORPHA:217622 |
Lymphatic Malformation 7 |
|
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Low-set ears, Deeply set eye, Cerebral hemorrhage, Hypergonadotropic hypogonadism, Abnormality of... |
OMIM:300845 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
Nephrosialidosis |
|
Ascites, Pericardial effusion, Bone-marrow foam cells |
OMIM:256150 |
Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Pes cavus, Type 1 musc... |
OMIM:160500 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... |
ORPHA:860 |
Familial Isolated Dilated Cardiomyopathy |
|
Lipoatrophy, Elevated circulating creatine kinase concentration, Abnormality of neutrophils, Dila... |
ORPHA:154 |
Noonan Syndrome 8 |
|
Low-set ears, Abnormal sternum morphology, Atrial septal defect, Hypertelorism, Relative macrocep... |
OMIM:615355 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... |
OMIM:601927 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis, Cholestasis, Hepa... |
OMIM:231100 |
Cardiomyopathy, Dilated, 1W |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613122 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Brachydactyly, Abnormal atrioventricular conduction, Abn... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... |
OMIM:614676 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98855 |
Heart-Hand Syndrome, Slovenian Type |
|
Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly, Dilated cardiomyopathy, Cli... |
OMIM:610140 |
Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613286 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... |
OMIM:253300 |
Cantu Syndrome |
|
Narrow chest, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Macrocephaly, Broa... |
OMIM:239850 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Macrocephaly, Pectus excavatum, Spindle-shaped finger, Cutaneous... |
ORPHA:166024 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal aortic morphology, Abnormal ... |
ORPHA:3405 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Dilated cardiomyopathy, ... |
OMIM:611615 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal ... |
OMIM:618815 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98853 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Aplasia of the phalanges of the 3rd toe, Dila... |
ORPHA:2229 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... |
OMIM:612201 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... |
ORPHA:63273 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... |
ORPHA:563 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Right aortic arch, Dextrotransposition of the great arteries, Pulm... |
OMIM:613751 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Premature birth, Cardiomegaly, Congestive h... |
OMIM:269920 |
Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613252 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... |
ORPHA:86812 |
Non-Distal Trisomy 10Q |
|
Pectus excavatum, Hypertelorism, Convex nasal ridge, Depressed nasal bridge, Microcephaly, Microg... |
ORPHA:1695 |
Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... |
ORPHA:300751 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Areflexia of lower limbs, Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy... |
OMIM:619903 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... |
OMIM:614954 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hirsutism, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, ... |
OMIM:613327 |
Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase c... |
OMIM:616827 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:34587 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Pectus excavatum, Hypertelorism, Pulmonic stenosis, Brachydactyly, Low-set, posteriorly rotated e... |
ORPHA:2701 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Flexion contracture, Small for gestational age, Left ventricular hy... |
OMIM:616733 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... |
OMIM:613874 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Atrial septal defect, External genital hypoplasia, Postaxial hand polydact... |
OMIM:615981 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Pectus excavatum, Talipes equinovarus, Facial palsy, Pes cavus, Type 1 muscle fi... |
OMIM:617336 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy, Prelingual sensorineural hearing impairment, Vestibular dysfunction |
OMIM:618632 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Decreased liver function, Hepatomegaly, Flexion contracture, He... |
ORPHA:367 |
Mcdonough Syndrome |
|
Diastasis recti, Pectus excavatum, Aortic valve stenosis, Atrial septal defect, Hypertelorism, Pu... |
OMIM:248950 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Sensorineural hearing impairment, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardi... |
OMIM:617713 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Flared nostrils, Low-set ears, Deeply set eye, Cerebral hemorrhage, Hypergonadotropic hypogonadis... |
ORPHA:280679 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated ci... |
OMIM:300718 |
Myopathy, Congenital, Nonprogressive |
|
Atrial septal defect, Weakness of facial musculature, Elevated hepatic transaminase, Polyhydramni... |
OMIM:619967 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal left ventricular function, Severe short stature, Lower limb hypertonia, Left ventricular... |
ORPHA:3208 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Thoracic scoliosis, Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, EM... |
OMIM:255160 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Neuraminidase Deficiency |
|
Hepatomegaly, Facial edema, Cherry red spot of the macula, Splenomegaly, Hydrops fetalis, Bone-ma... |
OMIM:256550 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,... |
OMIM:231530 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Carvajal Syndrome |
|
Patchy palmoplantar hyperkeratosis, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Hydrops fetalis, Arrhythmia, Ab... |
ORPHA:45452 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Low-set ears, Pectus excavatum, Atrial septal defect, Hyperteloris... |
OMIM:179613 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Micrognathia, Frontalis muscle weakness, Dil... |
OMIM:300580 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Micropenis, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Macro... |
OMIM:613156 |
Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure |
OMIM:236750 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... |
OMIM:249670 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, Dil... |
ORPHA:206559 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Thickened nuchal skin f... |
OMIM:618164 |
Mental Retardation, Buenos Aires Type |
|
Low-set ears, Protruding ear, Pectus excavatum, Atrial septal defect, Clinodactyly of the 5th fin... |
OMIM:249630 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Pericardial Effusion, Chronic |
|
Retinal arteriolar tortuosity, Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Macrocephaly, Hepatomegaly, Ventricular septal defect, Increased circulating free fatty acid leve... |
ORPHA:26793 |
Nuchal Bleb, Familial |
|
Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Hyporeflexia of lower limbs, Third degr... |
OMIM:601419 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Familial Dilated Cardiomyopathy |
|
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular... |
ORPHA:217607 |
Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... |
ORPHA:93323 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... |
ORPHA:2041 |
Nemaline Myopathy 3 |
|
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, D... |
OMIM:161800 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Edema, Ascites, Pericardial... |
OMIM:608776 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hyperalaninemia, Secondary microcephaly, Intrauterine growth retard... |
OMIM:614654 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Craniofaciofrontodigital Syndrome |
|
Low-set ears, Pectus excavatum, Macrocephaly, Hypoplastic vertebral bodies, Depressed nasal bridg... |
OMIM:114620 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Macrocephaly, Atrial septal defect, Tetralogy of Fallot, Pulmonary... |
OMIM:618316 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Pes ... |
ORPHA:263494 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... |
OMIM:608758 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Craniofaciofrontodigital Syndrome |
|
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... |
ORPHA:363705 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Pericardial constriction, Hydrops fetalis, Ascites, Cardiomega... |
OMIM:253250 |
Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Micrognathia, Increased varia... |
ORPHA:171442 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Ascites, Premature birth |
ORPHA:2123 |
Congenital Enterovirus Infection |
|
Hepatic failure, Hydrops fetalis, Premature birth, Myocarditis, Cholestasis, Hypotension, Pericar... |
ORPHA:292 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine ki... |
OMIM:212138 |
Thanatophoric Dysplasia Type 1 |
|
Narrow chest, Macrocephaly, Atrial septal defect, Short femur, Depressed nasal bridge, Femoral bo... |
ORPHA:1860 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Proportionate short stature, Intrauterine growth ret... |
ORPHA:71212 |
Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, Left ventricular hypertrophy, EMG: myopathic abnormalities, Prolon... |
OMIM:619040 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... |
OMIM:612937 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Cardiomyopathy |
OMIM:619003 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:613876 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Talipes equinovarus, Micropenis, Sho... |
OMIM:607143 |
Gordon Syndrome |
|
Pectus excavatum, Clinodactyly of the 5th finger, Cryptorchidism, Camptodactyly of finger, Hearin... |
ORPHA:376 |
Noonan Syndrome 6 |
|
Sensorineural hearing impairment, Low-set ears, Pectus excavatum, Abnormal sternum morphology, Hy... |
OMIM:613224 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Microcephaly, Congenital muscular dystrophy, Dilated cardiomyopathy, Facial p... |
OMIM:602541 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Pectus excavatum, Anomalous pulmonary venous return, Absent thumb, ... |
ORPHA:392 |
Pelviscapular Dysplasia |
|
Low-set ears, Abnormal pinna morphology, Deeply set eye, Macrocephaly, Mesomelic leg shortening, ... |
ORPHA:93333 |
Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Pectus excavatum, Depressed nasal ridge, Down-sloping shoulders, Sa... |
ORPHA:1520 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration,... |
OMIM:611705 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Severe failure to thrive, Pulmonic stenosis,... |
ORPHA:3304 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Elevated circulati... |
OMIM:608099 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotr... |
OMIM:602390 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Multiple lipomas, Ragged-red muscle fibers, Dilated cardiomyopathy, Inc... |
ORPHA:1349 |
Frontoocular Syndrome |
|
Pectus excavatum, Atrial septal defect, Hypotelorism, Pulmonic stenosis, Micrognathia, Proptosis,... |
OMIM:605321 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:619702 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Timothy Syndrome |
|
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Hypoglycemia, Hypothyroidism, Paten... |
OMIM:601005 |
Fetal Gaucher Disease |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Intracranial hemorrhage, Hydrops fetalis, Abnorm... |
ORPHA:85212 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... |
OMIM:619897 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, ... |
OMIM:618120 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Tendon rupture, R... |
ORPHA:85451 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Hepatom... |
OMIM:614876 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Low-set ears, Hypospadias, Microcephaly, Brachydactyly, Tetralo... |
ORPHA:1919 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Glucose intolerance, Failure to thrive, Microcephaly, Joint contracture of the 5th finger, Impair... |
OMIM:614407 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hypertriglycerid... |
OMIM:610717 |
Myopathy, Myofibrillar, 3 |
|
Hyporeflexia of lower limbs, Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Achilles t... |
OMIM:609200 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Hypertrichosis, Low anterior hairline, Hyperinsulinemia, Hepatomegaly, Precoci... |
ORPHA:528 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:600649 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Sudden cardiac death, Exercise-induce... |
OMIM:201475 |
Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Bicuspid aortic valve, Protruding ear, Clinodactyly of the 5th finger, ... |
OMIM:618619 |
Noonan Syndrome 10 |
|
Mitral stenosis, Low-set ears, Pectus excavatum, Atrial septal defect, Hypertelorism, Relative ma... |
OMIM:616564 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Macrocephaly, Hypertelorism, Broad nasal tip, Tapered finger, Pes planus, Thick nasal alae, Low-s... |
OMIM:618147 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... |
ORPHA:324575 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Eleva... |
ORPHA:79230 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture |
OMIM:122850 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... |
ORPHA:3092 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, EMG: myopathic abnormalities, Elevated circulating creatine kinase ... |
OMIM:615418 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Pectus excavatum, Broad nasal tip, Microcephaly, Clinodactyly, Short palm, Wide nasal bridge |
ORPHA:73273 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy |
OMIM:615235 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Sudden cardiac death, Elevated circulating aspartate aminotransferase concentration... |
OMIM:614921 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Low-set ears, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of... |
ORPHA:1988 |
Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Ventricular septal defect, Bradycardia, Persistent left superior vena cava, Hyper... |
OMIM:618775 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Pectus excavatum, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystroph... |
ORPHA:272 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... |
OMIM:619313 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Anemia, Atrial septal defect |
OMIM:617408 |
White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
Hadziselimovic Syndrome |
|
Failure to thrive, Atrial septal defect, Microcephaly, Tetralogy of Fallot, Pulmonary artery atre... |
OMIM:612946 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Distally placed thumb, Cutaneous syndactyly, Tapered finger, Deeply set eye, Talipes equinovarus,... |
OMIM:619148 |
Pentasomy X |
|
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Small hand, Micrognathia, Cam... |
ORPHA:11 |
Acrocapitofemoral Dysplasia |
|
Narrow chest, Cone-shaped metacarpal epiphyses, Coxa vara, Macrocephaly, Pectus excavatum, Abnorm... |
ORPHA:63446 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Type II diabetes mellitus, Short stature, Renovascular hypertension, Overw... |
ORPHA:401923 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... |
DECIPHER:39 |
Chromosome 3Q29 Deletion Syndrome |
|
Pectus excavatum, Clinodactyly of the 5th finger, Microcephaly, Pectus carinatum, Tapered finger,... |
OMIM:609425 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Depressed nasal bridge, 11 pairs of ribs, Proptosis, Short nose, ... |
OMIM:108720 |
Neurooculocardiogenitourinary Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Atrial septal defect, Tricuspid regurgitation, Hy... |
OMIM:618652 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Failure to thrive, Decreased liver function, Left ventricular hypertrophy, Elevated hepatic trans... |
OMIM:616974 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbell-shaped fem... |
ORPHA:56304 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Cardiomyopathy |
OMIM:208750 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Short s... |
OMIM:612526 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Pectus excavatum, Tapered finger, Pectus carinatum, Large hands, Wide nose, Hypertelorism |
ORPHA:276630 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Protruding ear, Talipes equinovarus, Left ventricular hypertrop... |
ORPHA:169186 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Microcephaly, Atrial septal defect |
OMIM:614249 |
Pectus Excavatum, Macrocephaly, Short Stature, And Dysplastic Nails |
|
Macrocephaly, Depressed nasal bridge, Pectus excavatum, Relative macrocephaly |
OMIM:600399 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Pulmonic stenosis, Ketotic hypoglycemia, Decrea... |
ORPHA:79159 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:615297 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Hydrops fe... |
OMIM:212093 |
Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... |
OMIM:300257 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Bulbous nose, Pectus excavatum, Tendon rupture, Recurrent shoulder dislocation, Genu valgum, Sand... |
ORPHA:230851 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... |
OMIM:252011 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... |
OMIM:220210 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypert... |
OMIM:617021 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Facial palsy, Dilated cardiomyopathy, Micrognathia |
OMIM:615959 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Posterior rib fusion, Ventr... |
OMIM:608406 |
Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Nemaline Myopathy 1 |
|
Facial diplegia, Nemaline bodies, Pectus excavatum, Flexion contracture, EMG: myopathic abnormali... |
OMIM:609284 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Depressed nasal bridge, Talipes equinovalgus, Metacarpophalangeal joint hyperextensibility, 11 pa... |
OMIM:245600 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Reduced muscle carnitine level, Hyperammonemia, Endocardial fibr... |
OMIM:212140 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Hypergonadotropic hypogonadism, Microcephaly, Elevated circulating creatine kinase concentration,... |
OMIM:615084 |
Sialidosis Type 2 |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites, Skeletal ... |
ORPHA:87876 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hydrops fetalis, Elevated circulating aspartate aminotransferase concentration, Arrhythmia, Chole... |
OMIM:609015 |
Lujan-Fryns Syndrome |
|
Protruding ear, Pectus excavatum, Atrial septal defect, Macrocephaly, Arachnodactyly, Micrognathi... |
ORPHA:776 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... |
ORPHA:2442 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Loss... |
OMIM:604367 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Pectus excavatum, Macrocephaly, Finger joint hypermobility, Depressed nasal bridge, Monkey wrench... |
OMIM:618870 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Macrocephaly, Atrial septal defect, Microtia, Depressed nasal bri... |
ORPHA:261295 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Abn... |
ORPHA:57777 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Short stature, Proximal muscle weakness in lower limb... |
ORPHA:171706 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Increased variability in muscle fiber diameter, Myopathy, Decreased fe... |
OMIM:616816 |
Coffin-Siris Syndrome 7 |
|
Low-set ears, Bicuspid aortic valve, Pectus excavatum, Convex nasal ridge, Clinodactyly of the 5t... |
OMIM:618027 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
ST segment depression, Cerebral hemorrhage, Leukocytosis, Left ventricular hypertrophy, Cerebral ... |
ORPHA:90065 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia, Tricuspid regurgitation, Mitral regurgitation, Left ventricular... |
ORPHA:746 |
Burn-Mckeown Syndrome |
|
Abnormal cardiac septum morphology, Bilateral choanal atresia, Short nose, Hypertelorism, Promine... |
ORPHA:1200 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Protruding ear, Pectus excavatum, Macrocephaly, Radioulnar synostosis, Hearing abnormality, Promi... |
ORPHA:3270 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Whim Syndrome 2 |
|
Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Hydrops fetalis, Nonimmune hydrops... |
OMIM:603830 |
Martsolf Syndrome 1 |
|
Pectus excavatum, Finger joint hypermobility, Broad nasal tip, Depressed nasal bridge, Pectus car... |
OMIM:212720 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Labial hypoplasia, Pectus excavatum, Talipes equinovarus, Microcephaly, Camptodactyly of finger, ... |
ORPHA:1326 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Labial hypoplasia, Pectus excavatum, Hypotelorism, Talipes equinovarus, Micrognathia, Camptodacty... |
OMIM:211920 |
Alstrom Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Decreased response to growth hormone st... |
OMIM:203800 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Leg muscle stiffness, Diabetes mellitus, Distal lower limb muscle we... |
ORPHA:320360 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy, Vertigo, Microcephaly |
OMIM:614458 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Palmoplantar keratode... |
OMIM:605676 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Deeply set eye, Short stature, Elevated circulating creatine kinase... |
OMIM:232400 |
Short Stature And Facioauriculothoracic Malformations |
|
Pectus excavatum, Microtia, Overfolded helix, Cupped ear, Microcephaly, Pectus carinatum, Ventric... |
OMIM:609654 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Cholesta... |
OMIM:614300 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Low-set ears, Conductive hearing impairment, Pectus excavatum, Prominent sternum, Clinodactyly of... |
OMIM:617877 |
Polymyositis |
|
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Chondrocalcinos... |
ORPHA:732 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Low-set ears, Abnormal clavicle morphology, Micrognathia, Ventricular septal defect... |
ORPHA:93267 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... |
ORPHA:293964 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Short distal phalanx of finger, Protruding ear, Pectus excavatum, Hypospadias, Microcephaly, Micr... |
ORPHA:2013 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... |
OMIM:613873 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Sparse eyebrow, Alopecia, Sparse eyelashes, Hypoketotic hypoglycemia, Dilated ... |
OMIM:610768 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... |
OMIM:608836 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Protruding ear, Hypertelorism, Hypoplasia of penis, Finger syndactyly, Depressed nasal bridge, Mi... |
ORPHA:2256 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia |
ORPHA:306550 |
Mcdonough Syndrome |
|
Protruding ear, Pectus excavatum, Hypertelorism, Micrognathia, Aplasia/Hypoplasia of the abdomina... |
ORPHA:2471 |
Carcinoid Syndrome |
|
Tricuspid regurgitation, Right ventricular failure, Palpitations, Heart murmur, Elevated hepatic ... |
ORPHA:100093 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... |
ORPHA:276556 |
16P13.11 Microduplication Syndrome |
|
Pectus excavatum, Atrial septal defect, Arachnodactyly, Tetralogy of Fallot, Ventricular septal d... |
ORPHA:261243 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Macrocephaly, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulat... |
ORPHA:42 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Mucopolysaccharidosis, Type X |
|
Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp, Broad clavicles... |
OMIM:619698 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Narrow chest, Metaphyseal cupping, Short ribs, Microtia, Depressed nasal bridge, Iliac crest serr... |
OMIM:613320 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Low-set ears, Hypertelorism, Pectus excavatum, Posteriorly rotated ears |
OMIM:619548 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Lipoatrophy, Hepatomegaly, Pancreatitis, Diabetes mellitus, Insulin resistance,... |
ORPHA:79084 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Low-set ears, Bicuspid aortic valve, Pectus excavatum, Atrial septal defect, Hypertelorism, Protr... |
ORPHA:329224 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Generalized hirsutism, Reduced intraabdominal adipose tissue... |
ORPHA:363400 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... |
OMIM:301075 |
Noonan Syndrome 4 |
|
Thickened helices, Low-set ears, Pectus excavatum, Atrial septal defect, Abnormal sternum morphol... |
OMIM:610733 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Macrocephaly, Mitral regurgitation, Abnormal nasal morphology... |
ORPHA:83473 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... |
OMIM:619424 |
Insulin-Like Growth Factor I, Resistance To |
|
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Deeply set eye, Small hand,... |
OMIM:270450 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Pectus excavatum, Overfolded helix, Hypoplasia of the radius, Clitoral hypoplasia, Hypoplasia of ... |
OMIM:609945 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Li-Campeau Syndrome |
|
Atrial septal defect, Thick eyebrow, Ventricular septal defect, Downslanted palpebral fissures, T... |
OMIM:619189 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micr... |
OMIM:618278 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Atrial septal defect, Lymphopenia |
OMIM:614868 |
Noonan Syndrome 7 |
|
Large earlobe, Low-set ears, Pectus excavatum, Atrial septal defect, Macrocephaly, Pulmonic steno... |
OMIM:613706 |
Dk1-Cdg |
|
Failure to thrive, Short stature, Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fib... |
ORPHA:91131 |
Cataract-Hypertrichosis-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Pectus excavatum |
ORPHA:1375 |
Aarskog-Scott Syndrome |
|
Pectus excavatum, Hypertelorism, Clinodactyly of the 5th finger, Genu recurvatum, Finger syndacty... |
ORPHA:915 |
X-Linked Intellectual Disability, Abidi Type |
|
Protruding ear, Pectus excavatum, Microcephaly, Decreased testicular size, Hearing impairment, Pr... |
ORPHA:85273 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Narrow chest, Sensorineural hearing impairment, Short femur, Micrognathia, Femoral bowing, Metaph... |
ORPHA:440354 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Cerebellar hemorrhage, Hyper... |
ORPHA:99901 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Hypergonadotropic hypogonadism, Weakness of facial musculature, Microcephaly, Elevated circulatin... |
ORPHA:352447 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macrocephaly, Macroorchidism, Macrotia, Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
Idiopathic Congenital Hypothyroidism |
|
Decreased circulating T4 concentration, Macroglossia, Elevated circulating thyroid-stimulating ho... |
ORPHA:95717 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Microcephaly, Tetralogy of Fallot, Ventricular septal defect, Epicanthus, T... |
ORPHA:1913 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Hydrops fetalis, Dilated cardiomyopath... |
OMIM:230500 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Pancreatitis, Hyperuricemia, Loss of subcutaneous adipose tissue in limbs, Splenome... |
ORPHA:79083 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Abnormality of iron homeostasis, Jaundice, Failu... |
ORPHA:231226 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Micropenis, Short tibia, Microcephaly, Hypoplasia of the ulna, Aplasia... |
OMIM:612447 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Abnormality of the thyroid gland, EMG: myopathic abnormalities, Arrhythmia, Ragged-red muscle fib... |
OMIM:609286 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Amelia, Ventricular septal defect, Low-set ears, Foot oligodactyly |
OMIM:601357 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Growth delay, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic g... |
ORPHA:369 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Failure to thrive, Bicuspid aortic valve, Decreased body weight, Pulmonic stenosis, Mitral regurg... |
OMIM:616201 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Foot dorsiflexor weak... |
ORPHA:477817 |
Galloway-Mowat Syndrome 7 |
|
Pectus excavatum, Arachnodactyly, Micrognathia, Microcephaly, Partial duplication of thumb phalan... |
OMIM:618348 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Pectus excavatum, Convex nasal ridge, Clinodactyly of the 5th finger, Broad nasal tip, Brachydact... |
OMIM:619451 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Cardiac Lipidosis, Familial |
|
Microcephaly, Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Abnormal cardiac septum morphology, Low-set ears, Talipes equinovarus, Micropenis, Hypospadias, M... |
OMIM:612626 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Holosystolic mu... |
ORPHA:99095 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Pectoralis major hypoplasia, Limited interphala... |
OMIM:147750 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Tyshchenko Syndrome |
|
Narrow chest, Low-set ears, Pectus excavatum, Atrial septal defect, Pulmonic stenosis, Ventricula... |
OMIM:615102 |
3-Methylglutaconic Aciduria, Type V |
|
Intrauterine growth retardation, Microvesicular hepatic steatosis, Postnatal growth retardation, ... |
OMIM:610198 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Exocrine pancreatic insufficiency, Decreased body weight, Hepatome... |
ORPHA:1667 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Arrhythmia, Acute pancreatitis, Elevated hepatic transami... |
ORPHA:26791 |
Faciothoracogenital Syndrome |
|
Prominent scrotal raphe, Pectus excavatum, Micrognathia, Glandular hypospadias, Shawl scrotum, An... |
OMIM:227320 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Dilated car... |
OMIM:255310 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Pectus excavatum, Talipes equinovarus, Proximal muscle weakness in lower limbs, ... |
OMIM:615290 |
Fragile X Syndrome |
|
Pectus excavatum, Macrocephaly, Metacarpophalangeal joint hyperextensibility, Mitral valve prolap... |
OMIM:300624 |
Neonatal Lupus Erythematosus |
|
Abnormality of the liver, Neutropenia, Hepatomegaly, Macrocephaly, Splenomegaly, Hepatic failure,... |
ORPHA:398124 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Ohdo Syndrome, Sbbys Variant |
|
Bulbous nose, Cryptorchidism, Depressed nasal bridge, Microcephaly, Micrognathia, Dilated cardiom... |
OMIM:603736 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... |
OMIM:615285 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascite... |
ORPHA:36412 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Disproportionate short-limb short stature, Deeply set eye, Lymphopenia, Sparse hair, Inguinal her... |
OMIM:616541 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricular septal defect, Polysple... |
OMIM:306955 |
16P11.2P12.2 Microduplication Syndrome |
|
Hypospadias, Microcephaly, Pectus excavatum |
ORPHA:261204 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Bulbous nose, Pectus excavatum, Atrial septal defect, Hypertelorism, Clinodactyly of the 5th fing... |
OMIM:617061 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Weight loss, Pericarditis, Intrauterine growth retardation, Hypothyroidism, Elevate... |
OMIM:619487 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of the ear, Pectus excavatum, Hypotelorism, Abnormality of finger, Large iliac wing, ... |
ORPHA:2511 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart |
ORPHA:2476 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... |
ORPHA:1880 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Hepatomega... |
OMIM:235200 |
Aicardi-Goutieres Syndrome 2 |
|
Microcephaly, Lymphocytosis |
OMIM:610181 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Premature birth |
OMIM:618839 |
Shashi-Pena Syndrome |
|
Highly arched eyebrow, Macrocephaly, Atrial septal defect, Ptosis |
OMIM:617190 |
Primary Lipodystrophy |
|
Angina pectoris, Type II diabetes mellitus, Lipoatrophy, Pancreatitis, Hyperlipidemia, Splenomega... |
ORPHA:90970 |
Acrocraniofacial Dysostosis |
|
Abnormal pinna morphology, Pectus excavatum, Short 1st metacarpal, Tapered finger, Ulnar deviatio... |
ORPHA:949 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Decreased circulating re... |
ORPHA:320 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Overriding aorta, Fetal... |
OMIM:617022 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Generalized hirsutism, Lipoatrophy, Hepatomegaly, Cellulitis, Splenomegaly, Pancreatitis, Skeleta... |
ORPHA:2348 |
Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
Noonan Syndrome 12 |
|
Pectus excavatum, 11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect, Proximal plac... |
OMIM:618624 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Low-set ears, Pectus excavatum, Hypertelorism, Deeply set eye, Hypotelorism, Congenital diaphragm... |
OMIM:612530 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Nonimmune hydrops fetalis, Neonatal death, Hypertrophic cardiomyopathy,... |
OMIM:618835 |
14Q11.2 Microdeletion Syndrome |
|
Deeply set eye, Toe clinodactyly, Depressed nasal bridge, Micrognathia, Low-set, posteriorly rota... |
ORPHA:261120 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... |
ORPHA:231214 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Microcytic anemia, Hypoalbuminemia, Elevated ... |
OMIM:618805 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Obesity, Microcephaly, Ventricular septal hypertrophy |
OMIM:614947 |
Otopalatodigital Syndrome, Type I |
|
Pectus excavatum, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Broad distal phalan... |
OMIM:311300 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Acquired Generalized Lipodystrophy |
|
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, ... |
ORPHA:79086 |
Recombinant 8 Syndrome |
|
Low-set ears, Pectus excavatum, Atrial septal defect, Abnormal sternum morphology, Hypertelorism,... |
ORPHA:96167 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Microcephaly, Tetralogy of Fallot, Short nose, Sandal gap, Ventricular hype... |
OMIM:300887 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Glucose intolerance, Hepatomegaly, Sparse hair, Flexion contracture, Tricuspid regurgitation, Spa... |
OMIM:619127 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Short clavicles, Hypergonadotropic hypogonadism, Mitral regurgitation, Down-sloping shoulders, Di... |
OMIM:212112 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract obstruction, Pedal edema, Ascites, Abnormal ... |
ORPHA:77259 |
Sandhoff Disease |
|
Failure to thrive, Macrocephaly, Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Conge... |
ORPHA:796 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Sensorineural hearing impairment, Dilated cardiomyopathy |
OMIM:619688 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal pinna morphology, Femoral bowing, 11 pairs of ribs, Micromelia, Long foot, Proptosis, Ab... |
OMIM:210710 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Pectus excavatum, Cone-shaped epiphysis, Tapered finger, Broad hallux, Micrognathia, Hallux valgu... |
OMIM:618659 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Arthrogryposis... |
OMIM:614262 |
Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Maternal diabetes, Mitral atresia,... |
ORPHA:2248 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrop... |
OMIM:619167 |
Xp22.13P22.2 Duplication Syndrome |
|
Flared nostrils, Pectus excavatum, 2-3 toe syndactyly, Congenital diaphragmatic hernia, Small han... |
ORPHA:284180 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Joint contracture of the hand, Short palpebral fissure, Small for gestation... |
ORPHA:352490 |
Andersen-Tawil Syndrome |
|
Bulbous nose, Bidirectional ventricular ectopy, Prolonged QT interval, Torsade de pointes, Abnorm... |
ORPHA:37553 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Flexion contracture, Microcephaly, Progressive microcephaly, Bradycardia |
OMIM:614498 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Atrial septal defect |
ORPHA:3469 |
Necrotizing Enterocolitis |
|
Leukocytosis, Small for gestational age, Peritonitis, Hypotension, Thrombocytopenia, Shock, Brady... |
ORPHA:391673 |
Catel-Manzke Syndrome |
|
Low-set ears, Abnormal pinna morphology, Pectus excavatum, Clinodactyly of the 5th finger, Talipe... |
OMIM:616145 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Coffin-Siris Syndrome 10 |
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Ventricular septal defect, Epicanthus, Microcephaly |
OMIM:618506 |
Saul-Wilson Syndrome |
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Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Pectus excava... |
OMIM:618150 |
Double Outlet Right Ventricle |
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Double outlet right ventricle, Failure to thrive, Hypoplastic left heart, Pulmonic stenosis, Coar... |
ORPHA:3426 |
Anencephaly 1 |
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Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
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Spina bifida, Anencephaly |
OMIM:301410 |
Cardiomyopathy, Dilated, 2D |
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Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
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Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:614299 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... |
OMIM:614470 |
Cardiomyopathy, Familial Hypertrophic, 15 |
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Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... |
OMIM:613255 |
Cardiomyopathy, Dilated, 1O |
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Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Tarp Syndrome |
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Low-set ears, Pectus excavatum, Short sternum, Talipes equinovarus, Microtia, Hypoplasia of the r... |
OMIM:311900 |
X-Linked Intellectual Disability, Hedera Type |
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Left ventricular hypertrophy, Hyporeflexia of lower limbs, Pes planus, Calcaneovalgus deformity, ... |
ORPHA:93952 |
8Q12 Microduplication Syndrome |
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Atrial septal defect, Long palpebral fissure, Ventricular septal defect, Telecanthus, Epicanthus,... |
ORPHA:228399 |
Eosinophilia, Familial |
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Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia |
OMIM:131400 |
Pulmonary Capillary Hemangiomatosis |
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Pulmonary edema, Hemothorax, Right ventricular failure, Elevated pulmonary artery pressure, Pedal... |
ORPHA:199241 |
Noonan Syndrome 2 |
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Mitral stenosis, Low-set ears, Pectus excavatum, Abnormal sternum morphology, Atrial septal defec... |
OMIM:605275 |
Megalencephaly |
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Deeply set eye, Atrial septal defect, Macrocephaly, Long penis, Genu valgum, Wide nasal bridge, M... |
ORPHA:2477 |
8P23.1 Duplication Syndrome |
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Deeply set eye, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hearing impair... |
ORPHA:251076 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Impaired glucose tolerance, Myocardial... |
OMIM:610947 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Facial diplegia, Quadriceps muscle weakness, Reduced left ventricular ejection fraction, Limb mus... |
ORPHA:254892 |
Noonan Syndrome With Multiple Lentigines |
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Abnormal mitral valve morphology, Pectus excavatum, Atrioventricular canal defect, Aplasia/Hypopl... |
ORPHA:500 |
16P13.11 Microdeletion Syndrome |
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Sensorineural hearing impairment, Low-set ears, Pectus excavatum, Atrial septal defect, Talipes e... |
ORPHA:261236 |
3Q13 Microdeletion Syndrome |
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Narrow chest, Macrocephaly, Hypertelorism, Hypoplasia of penis, Anteverted nares, Cryptorchidism,... |
ORPHA:1621 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
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Large fleshy ears, Low-set ears, Pectus excavatum, Overfolded helix, Arachnodactyly, Microcephaly... |
OMIM:619092 |
Holt-Oram Syndrome |
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Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal... |
OMIM:142900 |
Barth Syndrome |
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Deeply set eye, Talipes equinovarus, Tricuspid regurgitation, Arrhythmia, Increased left ventricu... |
OMIM:302060 |
Pituitary Gigantism |
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Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:99725 |
Capillary Malformation-Arteriovenous Malformation |
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Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... |
ORPHA:137667 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Hypotelorism, Macrocephaly, Microtia, Micropenis, Short femur, Microcephaly, Ventricular septal d... |
OMIM:617798 |
Subaortic Stenosis--Short Stature Syndrome |
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Short palm, Short toe, Pectus excavatum, Membranous subvalvular aortic stenosis, Small hand, Barr... |
OMIM:271960 |
Teebi-Shaltout Syndrome |
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Low-set ears, Ulnar deviation of the hand, Pectus excavatum, Aortic valve stenosis, Talipes equin... |
OMIM:272950 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
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Abnormal left ventricular function, Intrinsic hand muscle atrophy, Limb-girdle muscle weakness, F... |
ORPHA:98912 |
Heterotaxy, Visceral, 2, Autosomal |
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Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... |
OMIM:605376 |
Cardiomyopathy, Dilated, 2B |
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Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
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Pectus excavatum, Massively thickened long bone cortices, Microcephaly, Brachydactyly, Micromelia... |
OMIM:122900 |
Ferguson-Bonni Neurodevelopmental Syndrome |
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Pectus excavatum, Congenital diaphragmatic hernia, Stenosis of the external auditory canal, Micro... |
OMIM:619699 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Pectus excavatum, Mucosal telangiectasiae, Hypoplasia of the musculature, Thin ribs, Abnormality ... |
ORPHA:2463 |
Greig Cephalopolysyndactyly Syndrome |
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Abnormal muscle fiber morphology, Hypertelorism, |