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, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,... |
OMIM:601127 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
7P22.1 Microduplication Syndrome |
|
Hypertelorism, Cryptorchidism, Abnormal heart morphology, Macrocephaly, Abnormality of the outer ear |
ORPHA:314034 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmoni... |
OMIM:619433 |
Congenital Heart Block |
|
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... |
ORPHA:60041 |
Noonan Syndrome 11 |
|
Relative macrocephaly, Posteriorly rotated ears, Depressed nasal bridge, Hypertelorism, Pectus ex... |
OMIM:618499 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis |
ORPHA:295 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Coarctatio... |
ORPHA:101028 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Micrognath... |
ORPHA:1388 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cardiomegaly, Micrognathia, Beaded ribs, Flexion contracture, Large fleshy ears, Micropenis, Ante... |
OMIM:616897 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Premature graying of hair, Increased intraabdominal fat,... |
ORPHA:280365 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy,... |
ORPHA:206546 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Hypoglycemia, Elevated circulating aspart... |
OMIM:619048 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... |
ORPHA:2414 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... |
ORPHA:435660 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal... |
OMIM:181350 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... |
ORPHA:171445 |
Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Microcephaly |
OMIM:251220 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Reduced subcutaneous adipose tissue, Short stature, Microcephaly, Dilated cardiomyopathy, Decreas... |
OMIM:618097 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Abnormal cardiac septum mor... |
ORPHA:1937 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb... |
ORPHA:90308 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... |
OMIM:618052 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hy... |
OMIM:232500 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Flexion contracture, Cardiomyopathy, Abnor... |
OMIM:608540 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion |
ORPHA:48686 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Abnormal pinna morphology, Hypertelorism, Pericardial effusion, Cryptorchidism, Clinodactyly, Pec... |
OMIM:614684 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Sandal gap, Microcephaly, Dilated cardiomyopathy, Clinodactyly of the ... |
ORPHA:2515 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Congestive heart failure, Sensorineural hearing impairment, Dilated cardiom... |
OMIM:605362 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Congestive heart failure, Recurrent infections of the midd... |
ORPHA:217622 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... |
OMIM:160500 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Scapular winging, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Posterio... |
OMIM:300280 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal... |
ORPHA:163596 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Familial Isolated Dilated Cardiomyopathy |
|
Lipoatrophy, Elevated circulating creatine kinase concentration, Abnormality of neutrophils, Dila... |
ORPHA:154 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... |
OMIM:231100 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Noonan Syndrome 8 |
|
Relative macrocephaly, Ventricular septal defect, Hypertelorism, Cryptorchidism, Palmoplantar cut... |
OMIM:615355 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Abnormal foot morphology, Dila... |
ORPHA:168796 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Hypertelorism, Pectus excavatum, Delayed epiphyseal ossification, Wide nasal bridge, Genu valgum,... |
ORPHA:166024 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98855 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Clinodac... |
OMIM:610140 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... |
OMIM:239850 |
Spinal Muscular Atrophy, Type I |
|
Decreased fetal movement, Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy... |
OMIM:253300 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... |
OMIM:540000 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Congestive heart failure, Hydrops feta... |
OMIM:269920 |
Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98853 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... |
ORPHA:3405 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardi... |
OMIM:618815 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Precocious puberty, Dila... |
ORPHA:2229 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Microcephaly, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased ... |
ORPHA:86812 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, First degree atrioventricular block, Pectus excavatum, Cardiomyop... |
OMIM:617336 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Abnormal atrioventri... |
ORPHA:3208 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dilated cardiomyopathy, Areflexia of lower limbs, Distal lower limb muscle... |
OMIM:619903 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Microcephaly, Hypertelor... |
ORPHA:1695 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Lipodystrophy, Hypertrigly... |
OMIM:613327 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Hypospadias, Pectus excavatum, Bulbous nose, Hypotelorism, Low-set ear... |
OMIM:618330 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Nonimmune hydrops fetalis, ... |
ORPHA:367 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Elevated circulating creatine kinase concentr... |
OMIM:616827 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Thoracic sco... |
OMIM:255160 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, External genital hypoplasia, Postaxial hand polydactyly, Dilated cardiomyo... |
OMIM:615981 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy, Abnormal vestibular function, Prelingual sensorineural hearing impa... |
OMIM:618632 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Wide nose, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Hypertelorism, Dilated cardiomyop... |
ORPHA:280679 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... |
ORPHA:34515 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypoglycemia, Small for gestational age, Cardiomegaly, Pericardial effusion, H... |
OMIM:614702 |
Congenital Myopathy 11 |
|
Elevated hepatic transaminase, Decreased fetal movement, Polyhydramnios, Breech presentation, Pat... |
OMIM:619967 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Brachydactyly, Anteverted nares, Hypertelorism, Pectus excavat... |
ORPHA:2701 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin... |
OMIM:616733 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma... |
ORPHA:555874 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... |
OMIM:256550 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Flexion contracture, ... |
OMIM:300718 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Prominent nose, Deeply set eye, Atrial septal defect, Patent foramen oval... |
OMIM:618316 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,... |
OMIM:231530 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Anteverted nares, Micrognathia, Depressed na... |
OMIM:179613 |
Myopathy, Myofibrillar, 1 |
|
Hyporeflexia of lower limbs, Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, ... |
OMIM:601419 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Micrognathia, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller th... |
OMIM:300580 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis |
ORPHA:65282 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... |
ORPHA:26793 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Decreased fetal movement, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal... |
OMIM:608776 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Micrognathia, Conductive hearing impairment, Rhizomelia, Anteverted nares, Hy... |
OMIM:611209 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Vertigo, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... |
OMIM:608758 |
Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Sing... |
ORPHA:185 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art... |
OMIM:161800 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee fle... |
OMIM:619040 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites |
ORPHA:2123 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Peric... |
OMIM:253250 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Depressed nasal ridge, Clinodactyl... |
ORPHA:1520 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Hypertelorism, Abnormal hand morp... |
OMIM:300845 |
Thanatophoric Dysplasia Type 1 |
|
Brachydactyly, Short femur, Bowing of the long bones, Depressed nasal bridge, Micromelia, Hypopla... |
ORPHA:1860 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Hepatic... |
ORPHA:71212 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Left ventricular systolic dysfunction, Facial palsy, Microcephaly, Cryptorchidism, Flexion contra... |
OMIM:613156 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Hepatocellular... |
OMIM:201475 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Adult-Onset Nemaline Myopathy |
|
Micrognathia, Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper ... |
ORPHA:171442 |
Dpm3-Cdg |
|
Pes planus, Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle mu... |
ORPHA:263494 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... |
OMIM:612937 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Increased adipose tissue, Congestive heart failure, Dilated cardiomyopa... |
ORPHA:1349 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension |
OMIM:619003 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Cardiac arres... |
OMIM:212138 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Abnormal cerebral vascular morphology... |
ORPHA:363705 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... |
ORPHA:71529 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... |
OMIM:616198 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... |
ORPHA:392 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... |
ORPHA:292 |
Legius Syndrome |
|
Posteriorly rotated ears, Micrognathia, Hypertelorism, Pectus excavatum, Supravalvar pulmonary st... |
OMIM:611431 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... |
OMIM:613759 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Shor... |
OMIM:618120 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Noonan Syndrome 6 |
|
Depressed nasal bridge, Hypertelorism, Pectus excavatum, Cryptorchidism, Sensorineural hearing im... |
OMIM:613224 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence, Breech presentation, Arthrogr... |
OMIM:615731 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulders, Telangiec... |
OMIM:212112 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated card... |
OMIM:602390 |
Frontoocular Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Pectus excavatum, Hypotelorism, P... |
OMIM:605321 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
Pelviscapular Dysplasia |
|
Brachydactyly, Congenital hip dislocation, Abnormal pinna morphology, Short femur, Hypoplastic sc... |
ORPHA:93333 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Cardiac arrest, Microcephaly, Bradycardia, Hypertrophic cardiomyopathy, Failure to ... |
OMIM:618235 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Unilateral ptosis, Overriding aorta, Microcephaly, Patent ductus arteriosus, Severe failure to th... |
ORPHA:3304 |
Gordon Syndrome |
|
Finger syndactyly, Decreased muscle mass, Camptodactyly of finger, Talipes, Pectus excavatum, Cry... |
ORPHA:376 |
Phenobarbital Embryopathy |
|
Hypospadias, Microcephaly, Hypertelorism, Aplasia/Hypoplasia of fingers, Abnormal nasal base norp... |
ORPHA:1919 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Impaired glucose tolerance, Long eyebrows, Microcephaly, Atrioventricular block, Growth delay, Gl... |
OMIM:614407 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Fetal Gaucher Disease |
|
Hepatomegaly, Decreased fetal movement, Fetal akinesia sequence, Splenomegaly, Abnormality of the... |
ORPHA:85212 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Broad nasal tip, Microcephaly, Pectus excavatum, Wide nasal bridge, Short palm, Clinodactyly |
ORPHA:73273 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Chromosome 3Q29 Deletion Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Microcephaly, Tapered finger, Long fingers, Pec... |
OMIM:609425 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Hearing impairment, Proximal placement of thumb... |
OMIM:618619 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypogl... |
ORPHA:276580 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... |
ORPHA:79230 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... |
OMIM:610717 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatic steatosis, Hepatomegaly... |
OMIM:614921 |
Pentasomy X |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Microcephaly, Hypertelo... |
ORPHA:11 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Pectus excavatum, Dilated cardi... |
ORPHA:272 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fib... |
OMIM:609200 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Hypertriglyceridem... |
ORPHA:528 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect, Microcephaly |
OMIM:614249 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Secondary microcephaly, Bradycardia, Left ventricular hypertrophy, Hyperalaninemia, Decreased lev... |
OMIM:614654 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic eventration, Elevated circulat... |
OMIM:610198 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... |
OMIM:618775 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabet... |
ORPHA:324575 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Narrow chest, Short phalanx of finger, Hypoplastic cervical vertebrae, ... |
ORPHA:56304 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Micrognathia, Deeply set eye, Narrow chest, Distally placed thumb, Hypospadias, Ta... |
OMIM:619148 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Cryptorchidism, Long penis, Abnormal rib morphology, Rib fusion, Coxa ... |
ORPHA:1988 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, De... |
ORPHA:276575 |
Noonan Syndrome 10 |
|
Relative macrocephaly, Mitral stenosis, Ventricular septal defect, Hypertelorism, Pectus excavatu... |
OMIM:616564 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Short stature, Highly arched eyebrow, Thick hair, Ov... |
ORPHA:401923 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal crease, Atrial septal defect, Tricus... |
ORPHA:230851 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Wide nose, Hypertelorism, Pectus excavatum, Tapered finger, Pectus carinatum, Large hands |
ORPHA:276630 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Pectus excavatum,... |
ORPHA:63446 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Sialidosis Type 2 |
|
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Hydrops fetalis, Pedal ... |
ORPHA:87876 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Micrognathia, Pectus carina... |
OMIM:245600 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy, Sensorineural hearing impairment |
OMIM:208750 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Intrauterine growth retardation, ... |
OMIM:616276 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Flexion contracture, Dilated cardiomyopathy, Ragged-red muscle fibers, Left ventri... |
OMIM:252011 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Micromelia, Finger joint hypermobility, Atrial septal defect, Patent foramen ovale, Microretrogna... |
OMIM:618870 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, P... |
ORPHA:79159 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Epicanthus, Ventricular septal defect, Microcephaly, Tetralogy of Fallot... |
OMIM:612946 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... |
DECIPHER:39 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Pectus excavatum, Nemaline bodies, Flexion contracture, Facial dipl... |
OMIM:609284 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Hyperte... |
OMIM:618652 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Pes planus, Posteriorly rotated ears, Tapered finger, Broad nasal tip, Hypertelorism, Wide nasal ... |
OMIM:618147 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc... |
OMIM:612526 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Patent foramen oval... |
OMIM:601005 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Talipes cavus equinovarus, Dilated cardiomyopathy, Abnormality of the ca... |
ORPHA:59135 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Vertebral hypoplas... |
OMIM:108720 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hor... |
ORPHA:171706 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Single umbilical artery, Hypoplastic le... |
OMIM:220210 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Depressed nasal bridge, Thickened helices, ... |
ORPHA:261295 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia |
OMIM:617585 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy, Primary microcephaly |
OMIM:620145 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:604367 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Osteopathia striata, Pectus carinatum, Finger joint hypermobili... |
OMIM:212720 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Hypertelorism, Pectus excavatum, Wi... |
OMIM:607131 |
Coffin-Siris Syndrome 7 |
|
Brachydactyly, Wide nose, Ventricular septal defect, Bicuspid aortic valve, Posteriorly rotated e... |
OMIM:618027 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Hypergonado... |
OMIM:203800 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu... |
ORPHA:746 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Pe... |
ORPHA:776 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Prominent nasal bridge, Prominent nose, Pectus excavatum, Hearing abnormality, Protruding ear, Ra... |
ORPHA:3270 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Prolonged QTc... |
ORPHA:90065 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Microcephaly, Pectus excavatum, Cupped ear, Pectus carinatum, Microtia... |
OMIM:609654 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Abnormal cardiac septum morphology, Sho... |
ORPHA:1200 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Pectus excavatum, Posteriorly rotated ears, Low-set ears, Hypertelorism |
OMIM:619548 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:616974 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... |
OMIM:609015 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy, Vertigo, Microcephaly |
OMIM:614458 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:618228 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Catel-Manzke Syndrome |
|
Micrognathia, Pectus carinatum, Clinodactyly of the 5th finger, Short metacarpal, Overriding aort... |
OMIM:616145 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circ... |
ORPHA:42 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circ... |
OMIM:232400 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 3rd toe, Microcephaly, Pectus excavatum, Hip dislocation, Patellar... |
ORPHA:1326 |
16P13.11 Microduplication Syndrome |
|
Pes planus, Ventricular septal defect, Arachnodactyly, Pectus excavatum, Hand polydactyly, Transp... |
ORPHA:261243 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy, Hypospadias, Microcephaly, Micrognathia, Pectus excavatum, Ulnar deviati... |
ORPHA:2013 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... |
OMIM:619424 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Wide nose, Short femur, Abnormal pinna morphology, Rhizomelia, Sandal gap, Small s... |
OMIM:607143 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Ventricular septal defect, Pr... |
ORPHA:93267 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Facial palsy,... |
OMIM:615084 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Heart murmur, ... |
ORPHA:100093 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Abnormal nasal morphology, Post... |
ORPHA:83473 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Micromelia, Cardiomegaly, Delayed epiphyseal ossification, Narrow chest, Iliac crest serration, A... |
OMIM:613320 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Dilated ... |
OMIM:610768 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Sing... |
OMIM:620244 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,... |
OMIM:608836 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:212140 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Microcephaly... |
OMIM:251880 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Short stature, Congestive heart failure, Dilated cardiomyopathy, C... |
ORPHA:91131 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Decreased fetal movement, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular sep... |
OMIM:620070 |
Li-Campeau Syndrome |
|
Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Downslanted palpebral fissures,... |
OMIM:619189 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Posteriorly rotated ears, Sandal gap, Anteverted nares, Pectus excavatum, Short... |
OMIM:617877 |
Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Prominent nose, Underdeveloped nasal alae, Hyper... |
ORPHA:2471 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... |
OMIM:609945 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,... |
ORPHA:79084 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Centrally nuclea... |
OMIM:255320 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Noonan Syndrome 7 |
|
Depressed nasal bridge, Thickened helices, Hypertelorism, Pectus excavatum, Macrocephaly, Pectus ... |
OMIM:613706 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Pes planus, Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Hypertelorism, Slende... |
ORPHA:329224 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Hearing impairment, Broad nasal tip, Pectus excavatum, Short thorax, Genu varum, Hip ... |
OMIM:619451 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated creatine ... |
ORPHA:99901 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anis... |
OMIM:618278 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Noonan Syndrome 4 |
|
Pectus excavatum of inferior sternum, Ventricular septal defect, Thickened helices, Posteriorly r... |
OMIM:610733 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizure... |
ORPHA:276556 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Depres... |
ORPHA:2256 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy,... |
ORPHA:477817 |
Cataract-Hypertrichosis-Intellectual Disability Syndrome |
|
Pectus excavatum, Depressed nasal bridge |
ORPHA:1375 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Thickened aortic valve cusp, Spatulate ribs, Broad clavicles, Wide nasal br... |
OMIM:619698 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... |
OMIM:255310 |
Aarskog-Scott Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Pes planus, Genu recurvatum, Talipes, Campt... |
ORPHA:915 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Scapula... |
ORPHA:26791 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... |
OMIM:306955 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Hepatic steatosis, Loss of facial adipose tissue, Generalized hirsutism, Hepat... |
ORPHA:79083 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Cln3 Disease |
|
Vacuolated lymphocytes, Increased circulating androgen concentration, T-wave inversion, Bradycard... |
ORPHA:228346 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Decreased body weight, Microc... |
ORPHA:1667 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Pes planus, Hip contracture, Scapular winging, Lower limb muscle weakness, Spinal muscular atroph... |
OMIM:615290 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb muscle weakne... |
OMIM:609286 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Hemolytic anemia, Aplastic an... |
ORPHA:398124 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Ventricular septal defect, Micrognathia, Microcephaly, Pectus exca... |
OMIM:618348 |
X-Linked Intellectual Disability, Abidi Type |
|
Prominent nasal bridge, Microcephaly, Pectus excavatum, Protruding ear, Decreased testicular size... |
ORPHA:85273 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio... |
OMIM:215045 |
Insulin-Like Growth Factor I, Resistance To |
|
Ventricular septal defect, Sandal gap, Microcephaly, Micrognathia, Pectus excavatum, Small hand, ... |
OMIM:270450 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Pectus excavatum, Tetra... |
OMIM:618624 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure, Microcephaly |
OMIM:212080 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Short stature, Hepa... |
ORPHA:369 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Micrognathia, Microcephaly, Cryptorchidism, Wide nasal bridge, Abnormal cardiac sept... |
OMIM:612626 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Foot oligodactyly, Low-set ears, Amelia |
OMIM:601357 |
16P11.2P12.2 Microduplication Syndrome |
|
Pectus excavatum, Hypospadias, Microcephaly |
ORPHA:261204 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Ventricular septal defect, Sandal gap, Depressed nasal bridge, Microcephaly, Mi... |
OMIM:617061 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis, Microcephaly |
OMIM:610181 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear... |
OMIM:311300 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Narrow nasal bridge, Brachydactyly, Microcephaly, Abnormal thumb morphology, Hearing abnormality,... |
ORPHA:2511 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver function, Neonatal death |
OMIM:618839 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormality of the malleus, Triphalangeal thumb, Conductive hearing impairment, Low... |
ORPHA:949 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia, Microcephaly |
OMIM:617182 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Pes planus, Pectus excavatum, Mitral valve prolapse, Macrocephaly, ... |
OMIM:300624 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Sm... |
ORPHA:36412 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Pes planus, Ventricular septal defect, Short hallux, Broad nasal tip, Long fingers, Wide nasal br... |
OMIM:620393 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Death in infancy, Failure to thrive, Autoimmune thr... |
OMIM:617514 |
Fetal Trimethadione Syndrome |
|
Epicanthus, Ventricular septal defect, Microcephaly, Synophrys, Transposition of the great arteri... |
ORPHA:1913 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, Deeply set ey... |
OMIM:617228 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Pectus excavatum, Cryptorchidism, Proptosis,... |
OMIM:615102 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Hypersplenism, Splenomegaly, Pedal edema, Pulmonary arterial ... |
ORPHA:77259 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Inguinal hernia, Diabetes mellitus, Short stature, Microcephaly, Insulin resistance,... |
OMIM:616541 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of deltoid muscle, Short femur, Limited interphalangeal moveme... |
OMIM:147750 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Premature birth, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Hypertrophi... |
OMIM:618835 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Cryptorchidism, Fibular hypoplas... |
OMIM:612447 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure, Macrocephaly, Macroorchidism, Macrotia |
OMIM:300886 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... |
OMIM:235200 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... |
ORPHA:603 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Small scrotum, Micrognathia, Prominent nose, 2-3 toe cutaneous syndac... |
OMIM:609625 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Pectus excavatum, Macrocep... |
OMIM:618272 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... |
ORPHA:2348 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... |
OMIM:615959 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Micrognathia, Broad hallux, Hypospadias, Tapered finger, Hypertelorism, Cryptorchidism, Short toe... |
OMIM:618659 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... |
OMIM:619167 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Thickened ribs, Abnormal heart valve morphology, Hypertelorism, Splenomegaly, Conge... |
OMIM:230500 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... |
OMIM:619657 |
Ohdo Syndrome, Sbbys Variant |
|
Posteriorly rotated ears, Depressed nasal bridge, Hypospadias, Microcephaly, Micrognathia, Crypto... |
OMIM:603736 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Short stature, Microcephaly, Dilated cardiomyopathy, Hyperammonemia, Hypogonadism, ... |
ORPHA:254913 |
Apparent Mineralocorticoid Excess |
|
Short stature, Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Left ventric... |
ORPHA:320 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Tapered finger, Microcephaly, Broad nasal tip, Hypertelorism, Re... |
ORPHA:284180 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Microcephaly,... |
ORPHA:352447 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Toe syndactyly, Ventricular septal defect, Depressed nasal bri... |
ORPHA:261120 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated... |
OMIM:618805 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Conductive hearing impairment, Hypertelorism, Central Y-shaped metac... |
OMIM:277170 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Hypoalbuminemia, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Hemolytic ane... |
OMIM:619487 |
Recombinant 8 Syndrome |
|
Small scrotum, Ventricular septal defect, Camptodactyly of finger, Anteverted nares, Micrognathia... |
ORPHA:96167 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial ... |
OMIM:620265 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase... |
OMIM:617713 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Macrocephaly, Cherry red spot of the macula... |
ORPHA:796 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Sensorineural hearing impairment, Dilated cardiomyopathy |
OMIM:619688 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Premature birth, Sudden cardiac death, Cong... |
ORPHA:1880 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Sandal gap, Congenital diaphragmatic hernia, Microcephaly, Anteverted ... |
OMIM:612530 |
Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Broad nasal tip, Conductive heari... |
OMIM:617808 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Syndactyly, Broad hallux, Micrognathia, Hypertelorism, Pectus excavatum, ... |
OMIM:212780 |
Cardiomyopathy, Dilated, 1O |
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Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Acquired Generalized Lipodystrophy |
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Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re... |
ORPHA:79086 |
Andersen-Tawil Syndrome |
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Micrognathia, Prominent U wave, Abnormal T-wave, Prolonged QTc interval, Polymorphic and polytopi... |
ORPHA:37553 |
Double Outlet Right Ventricle |
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Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta... |
ORPHA:3426 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
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Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Increased ... |
OMIM:619355 |
Cardiac Diverticulum |
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Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Familial Dyskinesia And Facial Myokymia |
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Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia |
ORPHA:324588 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Eosinophilia, Familial |
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Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
8P23.1 Duplication Syndrome |
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Wide nose, Toe syndactyly, Ventricular septal defect, Hypertelorism, Deeply set eye, Pulmonic ste... |
ORPHA:251076 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
X-Linked Intellectual Disability, Hedera Type |
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Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Left ventricular hypertrophy, Hypor... |
ORPHA:93952 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
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Syndactyly, Arachnodactyly, Microcephaly, Hypertelorism, Pectus excavatum, Clinodactyly, Large fl... |
OMIM:619092 |
Lymphatic Malformation 6 |
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Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Cardiomyopathy, Dilated, 1G |
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Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Atrial Septal Defect 6 |
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Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Cardiomyopathy, Dilated, 2H |
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Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Small hypothenar eminence, Wide nose, Arachnodactyly, Long foot, Cardiomegaly, Hypoplasia of the ... |
ORPHA:2463 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... |
OMIM:619127 |
Combined Oxidative Phosphorylation Deficiency 8 |
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Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
Teebi-Shaltout Syndrome |
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Syndactyly, Small earlobe, Ventricular septal defect, Rocker bottom foot, Ulnar deviation of the ... |
OMIM:272950 |
Necrotizing Enterocolitis |
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Shock, Hyponatremia, Small for gestational age, Peritonitis, Leukocytosis, Abnormal heart morphol... |
ORPHA:391673 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle... |
ORPHA:254892 |
Greig Cephalopolysyndactyly Syndrome |
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Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Abnormal muscle fiber morpho... |
OMIM:175700 |
3Q13 Microdeletion Syndrome |
|
Hypoplasia of penis, Anteverted nares, Hypertelorism, Cryptorchidism, Wide nasal bridge, Narrow c... |
ORPHA:1621 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
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Abnormal pinna morphology, Micrognathia, Microcephaly, Underdeveloped nasal alae, Pectus excavatu... |
ORPHA:77300 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Coronary-pulmonary artery fistula, Micrognathia, Congenital diaphragmatic hernia, Hypertelorism, ... |
OMIM:619699 |
Noonan Syndrome With Multiple Lentigines |
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Bundle branch block, Myocardial infarction, Pectus carinatum, Sprengel anomaly, Severe sensorineu... |
ORPHA:500 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... |
OMIM:142900 |
Capillary Malformation-Arteriovenous Malformation |
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Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Epistaxis, Lymphedema, Cerebral arte... |
ORPHA:137667 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis... |
ORPHA:834 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Short femur, Ventricular septal defect, Microcephaly, Cryptorchidism, Genu valgum, Hypotelorism, ... |
OMIM:617798 |
Muscular Dystrophy, Duchenne Type |
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Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:310200 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Increased circulating insulin-like growth fact... |
ORPHA:99725 |
Noonan Syndrome 2 |
|
Relative macrocephaly, Mitral stenosis, Ventricular septal defect, Posteriorly rotated ears, Micr... |
OMIM:605275 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
8Q12 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Highly arched eyebrow, Long palpebral fissure... |
ORPHA:228399 |
Bardet-Biedl Syndrome 19 |
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Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Infantile Spasms-Broad Thumbs Syndrome |
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Vaginal hernia, Micrognathia, Microcephaly, Hypertelorism, Broad thumb, Hypertrophic cardiomyopat... |
ORPHA:3173 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Paget Disease Of Bone 6 |
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Left ventricular hypertrophy |
OMIM:616833 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, C... |
OMIM:618280 |
Mitochondrial Trifunctional Protein Deficiency 2 |
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Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating aspa... |
OMIM:620300 |
Megalencephaly |
|
Macroorchidism, Long penis, Wide nasal bridge, Genu valgum, Deeply set eye, Macrocephaly, Atrial ... |
ORPHA:2477 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Microcephaly, Elevated circulating acylcarnitine concentration, Cardiomyopa... |
ORPHA:26792 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death... |
OMIM:310300 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Low-set, posteriorly rotated ears, Hallux valgus, Toe syndactyly, Brachydactyly... |
ORPHA:1327 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Decreased pate... |
ORPHA:98912 |
Christianson Syndrome |
|
Decreased muscle mass, Microcephaly, Abnormality of the nose, Pectus excavatum, Abnormal thorax m... |
ORPHA:85278 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Ventricular septal defect, Posteriorly rotated ears, Rocker bottom foot, Depressed nas... |
OMIM:612582 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Decreased fetal movement, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Decreased fetal movement, Skeletal muscle atrophy, Premature birth, Spinal muscular atrophy, Poly... |
OMIM:616867 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Anteverted nares, Microcephaly, Metatarsus va... |
ORPHA:261236 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Pectus excavatum, Tapered finger, Deeply set eye, Microcephaly |
ORPHA:85280 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Epicanthus, Small for gestational age, Highly arched eyebrow, Microcephaly, Bilateral ptosis, Abn... |
ORPHA:352490 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Short femur, Micrognathia, Hypertelorism, Abnormal foot morphology, Upper li... |
ORPHA:94068 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... |
OMIM:608594 |
Malonyl-Coa Decarboxylase Deficiency |
|
Dilated cardiomyopathy, Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Short stature |
OMIM:248360 |
Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, ... |
ORPHA:1716 |
Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e... |
ORPHA:199241 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Umbilical hernia, Hi... |
OMIM:269700 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Short stature, Microcephaly, Low anterior hairline, Del... |
OMIM:616033 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect, Microcephaly |
ORPHA:391646 |
Distal Deletion 10Q |
|
Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, Hyp... |
ORPHA:96148 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Ventricular septal defect, Micromelia, Mi... |
ORPHA:2772 |
Boudin-Mortier Syndrome |
|
Long toe, Mallet finger, Pes planus, Arachnodactyly, Pectus excavatum, Long fingers, Pseudoepiphy... |
OMIM:619543 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Temple-Baraitser Syndrome |
|
Wide nose, Broad hallux, Depressed nasal bridge, Proximal placement of thumb, Hypertelorism, Addu... |
OMIM:611816 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... |
OMIM:151660 |
Obesity Due To Sim1 Deficiency |
|
Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Increased resting ene... |
ORPHA:369873 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Anhydramnios |
OMIM:613885 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... |
OMIM:126320 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Microcephaly, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left... |
OMIM:605376 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Hypertelorism, Pectus excavatum, Bulbous nose, Wide nasal bri... |
OMIM:618571 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Fair hair, Cyclic neutr... |
OMIM:302060 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Clubbing of fingers, Left ventricular... |
ORPHA:335 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rot... |
OMIM:619343 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Yuan-Harel-Lupski Syndrome |
|
Epicanthus, Ventricular septal defect, Bicuspid aortic valve, Upslanted palpebral fissure, Aortic... |
OMIM:616652 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Decreased fetal movement, Patent ductus arteriosus, Atrial septal ... |
OMIM:614886 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Tarp Syndrome |
|
Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Anteverted nar... |
OMIM:311900 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Hyperextensibility of the finger joints, Macroorchidism, Ventricular septal ... |
OMIM:309520 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... |
ORPHA:781 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Hypertelorism, Abnormal thorax morphology, Flexion contrac... |
ORPHA:171433 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Patent ... |
OMIM:612561 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Cardiomegaly, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropi... |
ORPHA:465508 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth |
OMIM:600972 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Microcephaly, Micrognathia, Conductive... |
ORPHA:1131 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Fetal p... |
OMIM:620167 |
Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Micrognathia, Hypotelorism, Conductive hearing impairment, Short ... |
ORPHA:2980 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Depressed nasal bridge, Hypertelorism, Diaphyseal sclerosis, Wide nasal bridge, F... |
OMIM:122860 |
Mucolipidosis Type Ii |
|
Dry hair, White hair, Knee flexion contracture, Shallow orbits, Patent foramen ovale, Telangiecta... |
ORPHA:576 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, In... |
OMIM:610947 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Microcephaly, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endom... |
OMIM:602541 |
Filippi Syndrome |
|
Ventricular septal defect, Microcephaly, 2-4 toe syndactyly, Underdeveloped nasal alae, Cryptorch... |
OMIM:272440 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Microcephaly, Pectus excavatum... |
OMIM:619694 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Atrial septal defect, Ne... |
OMIM:265380 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Hypoplastic nasa... |
OMIM:186500 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Hypertelorism, Osteolysis involving bones of the upper limbs, Flexion contracture, Sh... |
ORPHA:88630 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Brachydactyly, Ventricular septal defect, Prominent nasal bridge, Hypertelorism, Short thumb, Cry... |
ORPHA:401935 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... |
ORPHA:439232 |
Mitral Valve Prolapse 1 |
|
Pectus excavatum, Mitral regurgitation, Mitral valve prolapse |
OMIM:157700 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Elevated hepatic transaminase, Diaphragmatic eventration, Microvesicular h... |
ORPHA:66634 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pectus excavatum, Pulmonic stenosis, Atrial septal defect, Hypertrophi... |
OMIM:615279 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Anteverted nares, Pectus excavatum, Hypotelorism, A... |
ORPHA:1515 |
Cap Myopathy |
|
Pes planus, Thoracic scoliosis, Reduced systolic function, Facial palsy, Abnormal muscle fiber mo... |
ORPHA:171881 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98863 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
Shprintzen-Goldberg Syndrome |
|
Micrognathia, Protruding ear, Pectus carinatum, Narrow chest, Conductive hearing impairment, Arac... |
ORPHA:2462 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Micrognathia, Microcephaly, Pectus excavatum, Abnormal... |
ORPHA:2522 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Protruding ear, Pectus carinatum, Abnormal tricuspid valve morphology, T... |
ORPHA:192 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Anteverted nares, Short... |
ORPHA:1517 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Depressed nasal bridge, Bowing of the legs... |
OMIM:100800 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Pes planus, Scapular winging, Posteriorly rotated ears, Prominent nasal bri... |
OMIM:619745 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati... |
OMIM:615895 |
Desbuquois Dysplasia 2 |
|
Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx of finger, ... |
OMIM:615777 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Fifth finger distal phalanx clinoda... |
ORPHA:3369 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Ventricular septal defect, Pectus excavatum, Cryptorchidism, Protruding ear, Pect... |
OMIM:301039 |
Renpenning Syndrome |
|
Decreased testicular size, Skeletal muscle atrophy, Hypospadias, Microcephaly, Abnormal thumb mor... |
ORPHA:3242 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Micrognathia, Short thumb, Wide nasal bridge... |
OMIM:618821 |
Trisomy 1Q |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:261344 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
ORPHA:308552 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... |
OMIM:618963 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Anteverted nares, Dextrocardia, Micrognathia, Hypertelorism, Long fing... |
ORPHA:96092 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Pectus excavatum, Deviation of finger, Deeply set eye, Bilateral talipes equinova... |
ORPHA:1154 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Neonatal hy... |
ORPHA:90674 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Facial palsy, Pectus excavatum, Increased variability in muscle fiber di... |
OMIM:614399 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Small for gestational age... |
OMIM:301056 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent nasal bridge, Cardiome... |
ORPHA:324410 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral... |
OMIM:618974 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, ... |
OMIM:617022 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Opsismodysplasia |
|
Hepatomegaly, Depressed nasal bridge, Tapered finger, Pectus excavatum, Splenomegaly, Squared ili... |
ORPHA:2746 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Pes planus, Genu recurvatum, Pectus excavatum, Calcaneovalgus deformity, Mi... |
OMIM:225320 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... |
OMIM:608971 |
Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Aplasia/Hypoplasia of the thumb, Micromelia, Mic... |
ORPHA:1597 |
Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Ventricular septal defect, Thickened helices, Posteriorly rotated ears,... |
OMIM:609942 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Arachnodactyly, Pectus excavatum, Pectus carinatum, Mitral valve prolapse |
OMIM:616166 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly |
OMIM:613011 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Patent ductus arte... |
OMIM:606003 |
Leopard Syndrome 1 |
|
Bundle branch block, Depressed nasal ridge, Protruding ear, Pectus carinatum, Aplasia of the ovar... |
OMIM:151100 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Secondary microcephaly |
OMIM:614326 |
Arterial Tortuosity Syndrome |
|
Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Hypertelorism, ... |
ORPHA:3342 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Pe... |
ORPHA:52055 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Hydrops fetalis, Cardiomyopathy, Abnormality of the liver, Muscula... |
ORPHA:88618 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Tricuspid regurgitation, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, S... |
OMIM:620306 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hallux valgus, Abnormal pinna morphology, Micrognathia, Microcephaly, Pectus excavatum, Bulbous n... |
OMIM:614104 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspl... |
OMIM:270100 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
OMIM:606703 |
Trisomy 13 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydrops fetalis |
ORPHA:3378 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Pes planus, Hypospadias, Prominent nasal bridge, Congenital diaphragma... |
OMIM:300978 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Allan-Herndon-Dudley Syndrome |
|
Hallux valgus, Pes planus, Microcephaly, Pectus excavatum, Flexion contracture, Underfolded super... |
OMIM:300523 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Roifman Syndrome |
|
Narrow nasal bridge, Noncompaction cardiomyopathy, Hip contracture, Epiphyseal dysplasia, Hypogon... |
ORPHA:353298 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Hypertelorism, Abnormal ossification involving the femoral... |
ORPHA:1190 |
Vici Syndrome |
|
Lymphopenia, Failure to thrive, Hypopigmentation of hair, Elevated circulating creatine kinase co... |
OMIM:242840 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Polyhydramnios, Aspleni... |
ORPHA:99776 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Dilated cardiomy... |
OMIM:607155 |
Tetrasomy 5P |
|
Posteriorly rotated ears, Overlapping toe, Short hallux, Micrognathia, Anteverted nares, Long fin... |
ORPHA:3309 |
Hyperparathyroidism, Transient Neonatal |
|
Short femur, Anteverted nares, Metaphyseal spurs, Depressed nasal bridge, Wide nasal bridge, Undu... |
OMIM:618188 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, Wide nose, Thoracic scoliosis, External genita... |
ORPHA:79330 |
Distal Duplication 15Q |
|
Congenital muscular torticollis, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge,... |
ORPHA:1707 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect, Microcephaly |
ORPHA:357225 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Pectus excavatum, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph... |
ORPHA:2872 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Camptodactyly of finger... |
ORPHA:1703 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy |
OMIM:620089 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Sha... |
OMIM:182212 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Hypospadias, Camptodactyly of finger, Hypertelorism, Hypoplastic superior heli... |
ORPHA:3080 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestina... |
ORPHA:90362 |
8P23.1 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Deeply set eye, Enlar... |
ORPHA:251071 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Posteriorly rotated ears, Sandal gap, Congenital diaphragmatic hernia, M... |
OMIM:300887 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Pes planus, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae... |
ORPHA:521308 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ambiguous genitalia, Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Microce... |
OMIM:618142 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Arthrog... |
OMIM:607598 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Posteriorly rotated ears, Ventricular septal defect, Wide nasal bridge, Hypotelorism, Low-set ear... |
OMIM:314320 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Premature birth, Camptodactyly of finger, Splenomegaly, Congestive hea... |
ORPHA:354 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ... |
OMIM:615745 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Congenital hip dislocation, Anteverted nares, Hypertelorism, Hearing abn... |
ORPHA:2412 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Peri... |
OMIM:212065 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Tapered finger, Micrognathia, Hypertelorism, Pectus excavatum, Wide nasal bridge, Abn... |
ORPHA:1438 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... |
ORPHA:2457 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca... |
ORPHA:330001 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Cardiac... |
ORPHA:20 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Macrotia, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Hydrops fetalis, Cholelithiasis |
ORPHA:846 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Relative macrocephaly, Hepatomegaly, Hallux valgus, Thoracic kyphoscoliosis, Posteriorly rotated ... |
OMIM:613385 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Nonimmune hydrops fetalis |
ORPHA:477774 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Micrognathia, Protruding ear, Deeply set eye, Atrial septal defect, ... |
OMIM:613458 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... |
ORPHA:77261 |
Trisomy X |
|
Clinodactyly of the 5th finger, Hip dysplasia, Pectus excavatum, Hypertelorism |
ORPHA:3375 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Micr... |
OMIM:609308 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Microcephaly, Tapered finger, Pectus excavatum, Subvalvular ... |
ORPHA:65286 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Anteverted nares, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Pectus e... |
OMIM:231050 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped long bone, Pectus excavatum,... |
OMIM:156550 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal ossification, Flexion contracture, P... |
OMIM:210710 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Decreased fetal movement, Ventricular septal defect, Myopathy, Increased variability in muscle fi... |
OMIM:616816 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Inguinal hernia, Microcephaly, Growth delay, Bradycardia, Pulmonary arte... |
OMIM:619272 |
Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Neurofibromatosis-Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Hypertelorism, Cryptorchidism, Abnormal thorax morphology, Abn... |
ORPHA:638 |
Acropectoral Syndrome |
|
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... |
OMIM:605967 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Qazi-Markouizos Syndrome |
|
Torticollis, Prominent nasal bridge, Hypertelorism, Tapered finger, Cryptorchidism, Pectus excava... |
ORPHA:3010 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum... |
OMIM:127550 |
Xq12-Q13.3 Duplication Syndrome |
|
Depressed nasal bridge, Microcephaly, Hypertelorism, Cryptorchidism, Pectus excavatum, Recurrent ... |
ORPHA:314389 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Micrognathia, Pectus carinatum, Abnormal tricuspid valve morphology, Clinoda... |
ORPHA:1507 |
Saul-Wilson Syndrome |
|
Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Co... |
OMIM:618150 |
Cranioectodermal Dysplasia 2 |
|
Micrognathia, Narrow chest, Atrial septal defect, Patent foramen ovale, Simple ear, Hepatomegaly,... |
OMIM:613610 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Micrognathia, Hypertelorism, Flexion contracture, Increased muscle lipid conten... |
ORPHA:171439 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment... |
OMIM:266500 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Neonatal death, Atrial septal defect, Diaphragmatic even... |
OMIM:608978 |
Oculoauriculofrontonasal Syndrome |
|
Wide nose, Ventricular septal defect, Microcephaly, Micrognathia, Underdeveloped nasal alae, Bifi... |
ORPHA:398156 |
8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Congenital hip dislocation, Micromelia, Finger clinodactyly, Deeply set eye, ... |
ORPHA:508488 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinatum, Transposition ... |
OMIM:619910 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hypoglycemia, Congestive heart failure, Microvesicular hepatic ste... |
OMIM:611126 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Bifid nasal tip, Hypertelorism, Postaxial hand polydactyly, Hypoplastic frontal ... |
OMIM:136760 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... |
ORPHA:2847 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Thoracolumbar kyphosis, Flexion contracture, Pectus carinatum, Narrow greater sci... |
OMIM:253220 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Polyhydramnios |
ORPHA:1263 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
D-Glyceric Aciduria |
|
Hypoglycemia, Microcephaly, Nonketotic hyperglycinemia, Growth delay, Deeply set eye, Bradycardia... |
OMIM:220120 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Pes planus, Hypogonadotropic hypogonadism, Pectus excavatum, Cryptorchidism, Anosmia, Hypoteloris... |
OMIM:244200 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow |
OMIM:616898 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Achalasia, Short statur... |
ORPHA:324 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Diabetes mellitus, Decreased muscle glycogen cont... |
ORPHA:263297 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Overlapping toe, Microcephaly, Hypertelorism, Cryptorchidism, Bulbous nose, Macrocephaly, Atrial ... |
ORPHA:466926 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Microcephaly, Bradycardia, Joint contracture, Progressive microcephaly, Limb hyp... |
OMIM:614498 |
Aminoacylase 1 Deficiency |
|
Bradycardia, Hypertelorism |
OMIM:609924 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... |
ORPHA:536516 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pes planus, Arachnodactyly, Ventricular septal defect, Sandal gap, Congenital diaphragmatic herni... |
OMIM:617602 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Bilateral cryptorchidism, Short palm, Syndactyly, Anteve... |
OMIM:305400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive in infancy, Cardi... |
OMIM:619064 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Microcephaly, Cardiome... |
ORPHA:858 |
Mmep Syndrome |
|
Ventricular septal defect, Microcephaly |
ORPHA:3434 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Micrognathia, Ragged-red muscle fibers, Deeply set eye, Generalized amyotroph... |
OMIM:620351 |
Joubert Syndrome 32 |
|
Depressed nasal bridge, Hypertelorism, Postaxial hand polydactyly, Postaxial foot polydactyly, Ma... |
OMIM:617757 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Microcephaly, Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly |
OMIM:619170 |
Ring Chromosome 6 Syndrome |
|
Hypertelorism, Microcephaly, Wide nasal bridge, Macrotia, Short distal phalanx of finger |
ORPHA:1448 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Asplenia, Anomalous ... |
ORPHA:244 |
Melas |
|
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue,... |
ORPHA:550 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Atrial septal defect, Intrauterine growth ... |
OMIM:619573 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Anteverted nares, Proximal placement of thumb, Micrognathia, Cryptorch... |
ORPHA:261250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Micrognathia, Flexion contracture, Protruding ear, Talipes calcaneovarus, Deeply set eye, Micrope... |
OMIM:300534 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Pes planus, Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Prominent ... |
OMIM:616914 |
Polyendocrine-Polyneuropathy Syndrome |
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Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Postnatal g... |
ORPHA:453533 |
Bardet-Biedl Syndrome 1 |
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Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... |
OMIM:209900 |
Frank-Ter Haar Syndrome |
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Micrognathia, Secundum atrial septal defect, Protruding ear, Short palm, Atrial septal defect, Sh... |
OMIM:249420 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... |
OMIM:308240 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Attrv30M Amyloidosis |
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Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Prune Belly Syndrome |
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Congenital hip dislocation, Ventricular septal defect, Pectus excavatum, Cryptorchidism, Abnormal... |
ORPHA:2970 |
Cardiomyopathy, Dilated, 1S |
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Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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Internally nucleated skeletal muscle fibers, Genu recurvatum, Fatty replacement of skeletal muscl... |
ORPHA:206549 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
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Microcephaly, Micrognathia, Broad nasal tip, Hypertelorism, 2-3 toe syndactyly, Abnormal heart mo... |
OMIM:239800 |
Nephrotic Syndrome, Type 11 |
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Arachnodactyly, Ventricular septal defect, Micrognathia, Partial duplication of thumb phalanx, Di... |
OMIM:616730 |
Long Qt Syndrome 15 |
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Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Specc1L-Related Hypertelorism Syndrome |
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Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Female pseudohermaphroditis... |
ORPHA:1519 |
Insulin-Resistance Syndrome Type B |
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Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... |
ORPHA:2298 |
Hamamy Syndrome |
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Long toe, Syndactyly, Anteverted nares, Down-sloping shoulders, Prolonged QRS complex, Micrognath... |
OMIM:611174 |
Isolated Hemihyperplasia |
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Myelomeningocele |
ORPHA:2128 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Chitayat Syndrome |
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Hallux valgus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Pectus excavatum, Short c... |
OMIM:617180 |
Leigh Syndrome |
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Failure to thrive, Hepatocellular necrosis |
OMIM:256000 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
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Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... |
OMIM:608728 |
Finnish Upper Limb-Onset Distal Myopathy |
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Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Cardiomyopathy, ... |
ORPHA:399086 |
Kaposiform Lymphangiomatosis |
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Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Pancreatic cysts, Hepatosplen... |
ORPHA:464329 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Cardiomegaly |
ORPHA:88643 |
Atypical Werner Syndrome |
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Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair... |
ORPHA:79474 |
Lipoyltransferase 1 Deficiency |
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Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Bradycardia, Decreased liver f... |
OMIM:616299 |
Tako-Tsubo Cardiomyopathy |
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Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Truncus Arteriosus |
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Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Hemochromatosis, Type 2B |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... |
OMIM:613313 |
Sheehan Syndrome |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Meckel Syndrome, Type 7 |
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Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... |
OMIM:267010 |
Atrial Fibrillation, Familial, 18 |
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Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Broad hallux, Depressed nas... |
OMIM:620073 |
Hypoplastic Left Heart Syndrome 2 |
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Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Mucolipidosis Ii Alpha/Beta |
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Cardiomegaly, Micrognathia, Metaphyseal widening, Hepatomegaly, Anteverted nares, Depressed nasal... |
OMIM:252500 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
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Decreased fetal movement, Premature birth, Spinal muscular atrophy, Secundum atrial septal defect... |
OMIM:616866 |
Fabry Disease |
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Transient ischemic attack, Angina pectoris, Myocardial infarction, Congestive heart failure, Vent... |
OMIM:301500 |
Arthrogryposis, Distal, Type 5 |
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Decreased muscle mass, Arachnodactyly, Pectus excavatum, Absent phalangeal crease, Protruding ear... |
OMIM:108145 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
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Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Pectu... |
ORPHA:163654 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
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Bradycardia, Microcephaly |
ORPHA:2898 |
Mucopolysaccharidosis, Type Iiib |
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Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infec... |
OMIM:252920 |
20Q11.2 Microduplication Syndrome |
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Low-set, posteriorly rotated ears, Bifid scrotum, Anteverted nares, Depressed nasal bridge, Micro... |
ORPHA:363659 |
Nestor-Guillermo Progeria Syndrome |
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Sparse scalp hair, Alopecia, Lipoatrophy, Left atrial enlargement, Decreased serum leptin, Short ... |
OMIM:614008 |
Monosomy 18Q |
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Prominent nose, Secundum atrial septal defect, Bilateral cryptorchidism, Choanal stenosis, Bipari... |
ORPHA:1600 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Hypop... |
OMIM:611717 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
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Hepatomegaly, Ventricular septal defect, Splenomegaly, Coarctation of aorta, Leukopenia, Lymphopenia |
OMIM:620210 |
Kallmann Syndrome-Heart Disease Syndrome |
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Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... |
ORPHA:2326 |
Aortic Aneurysm, Familial Thoracic 12 |
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Aortic regurgitation, Pectus excavatum, Bicuspid aortic valve, Hypertelorism |
OMIM:619825 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
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Mixed hearing impairment, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Bil... |
OMIM:300472 |
Maternal Phenylketonuria |
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Epicanthus, Ventricular septal defect, Microcephaly, Bilateral ptosis, Abnormal heart morphology,... |
ORPHA:2209 |
Congenital Disorder Of Glycosylation, Type Iia |
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Pes planus, Posteriorly rotated ears, Ventricular septal defect, Proximal placement of thumb, Mic... |
OMIM:212066 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
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Epicanthus, Microcephaly, Patent ductus arteriosus, Coarctation of aorta, Long eyelashes, Atrial ... |
OMIM:615502 |
Lambert Syndrome |
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Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis |
ORPHA:1296 |
3-Methylglutaconic Aciduria Type 4 |
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Hypoglycemia, Microcephaly, Cardiomyopathy, Decreased liver function, Failure to thrive, Thromboc... |
ORPHA:67048 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
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Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... |
ORPHA:69735 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
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Aortic regurgitation, Pes planus, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, H... |
ORPHA:555877 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
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Slender build, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle m... |
OMIM:615156 |
Mgat2-Cdg |
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Low-set, posteriorly rotated ears, Posteriorly rotated ears, Ventricular septal defect, Hypertelo... |
ORPHA:79329 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Postnatal growth retardation, H... |
OMIM:246200 |
Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Shor... |
OMIM:617137 |
Hogue-Janssen Syndrome 2 |
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Broad hallux, Facial hypotonia, Postaxial polydactyly, Microcephaly, Anteverted nares, Hypertelor... |
OMIM:616362 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating aspartate amin... |
OMIM:256810 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Alopecia, Proptosis, Lipodystrophy,... |
OMIM:248370 |
Jacobsen Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Microcephaly, Micrognathia, ... |
OMIM:147791 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Wide nose, Anteverted nares, Down-sloping shoulders, Microcephaly, Micrognathia, Deviation of the... |
ORPHA:391408 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Microcephaly, Congenital foot contractures, Bradycardia, Intrauterine growth retardation, Neonata... |
ORPHA:565624 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Microcephal... |
ORPHA:159 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Hepatomegaly, Decreased fetal movement, Tricuspid regurgitation, Vent... |
ORPHA:79328 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Coxa valga, Prominent nose, ... |
OMIM:617425 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridg... |
OMIM:313420 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Micrognathia, Symphalangism affectin... |
ORPHA:2990 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Broad nasal tip, Micrognathia, Crypto... |
OMIM:615524 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Microcepha... |
ORPHA:79237 |
Osteogenesis Imperfecta, Type X |
|
Relative macrocephaly, Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia,... |
OMIM:613848 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Microcephaly, Hypertelorism, Precocious puberty, Bulbous nose, Wide nasal bridg... |
OMIM:300958 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Micrognathia, Microcephaly, Cryptorchidism, Bulbous nose, Pectus excavatum, ... |
ORPHA:1636 |
Bohring-Opitz Syndrome |
|
Short stature, Facial hypotonia, Cardiomegaly, Microcephaly, Hypertelorism, Synophrys, Bilateral ... |
ORPHA:97297 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... |
OMIM:616589 |
Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Peroneal muscle atrophy, Quadriceps muscle weakness, ... |
ORPHA:609 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Wide nose, Rocker bottom foot, Hypertelorism, Wide nasal bridge, Low-set ears,... |
ORPHA:89844 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Failure to thrive in infancy |
OMIM:619175 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Alagille Syndrome 2 |
|
Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Te... |
OMIM:610205 |
Alg8-Cdg |
|
Elevated hepatic transaminase, Premature birth, Edema, Hydrops fetalis, Macroglossia, Camptodacty... |
ORPHA:79325 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive... |
OMIM:256040 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect, Aortic regurgitation, Polyhydramnios, Oligohydramnios |
OMIM:615476 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Leprechaunism |
|
Skeletal muscle atrophy, Increased circulating renin level, Recurrent infantile hypoglycemia, Fas... |
ORPHA:508 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circula... |
ORPHA:97287 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h... |
OMIM:268310 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Premature birth, Polyhydramnios, Oligohydramnios |
ORPHA:3033 |
Achondrogenesis |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel... |
ORPHA:276608 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Anteverted nares, Postaxial polydactyly, Microcephaly, Micrognathia, Tapered fin... |
OMIM:613792 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Mitral atresia, Patent ductus arteriosus, Double outlet right ventric... |
OMIM:618164 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Failure to th... |
ORPHA:2394 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... |
OMIM:608612 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Congenital diaphragmatic hernia, Depressed n... |
ORPHA:2143 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Micrognathia, Flexion contracture, Deeply set eye, Generalized amyotrophy, He... |
OMIM:620369 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Laterally extended eyebrow, Ventricular septal defect, Highly arched eyebrow, Microcephaly, Secun... |
OMIM:600987 |
Down Syndrome |
|
Thickened nuchal skin fold, Prenatal double bubble sign, Ventricular septal defect, Complete atri... |
OMIM:190685 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Wide nose, Microcephaly, Pectus excavatum, Splenomegaly, Metaphyseal widening, Flex... |
OMIM:617303 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Pectus excavatum, Skeletal muscle atrophy, Hypertelorism, Microcephaly |
OMIM:618603 |
Osteoglophonic Dysplasia |
|
Short metatarsal, Short palm, Shallow orbits, Short phalanx of finger, Pseudoarthrosis, Broad met... |
OMIM:166250 |
Pseudoaminopterin Syndrome |
|
Micrognathia, Patent foramen ovale, Synostosis of carpal bones, Low-set, posteriorly rotated ears... |
ORPHA:221120 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Prominent nasal bridge, Pectus excavatum, Pectus carinatum, Narrow chest, Macrocephaly, Long foot |
OMIM:300676 |
Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
Braddock Syndrome |
|
Congenital muscular torticollis, Posteriorly rotated ears, Missing ribs, Micrognathia, Preaxial h... |
ORPHA:52047 |
Suleiman-El-Hattab Syndrome |
|
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Microcephaly, Synophrys, Downslante... |
OMIM:618950 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Anemia, Megaloblastic anemia |
ORPHA:51208 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Metaphyseal dysplasia, Mixed hearing impairment, Abnormal nasopharynx morphology, Facial palsy, H... |
OMIM:218400 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Arachnodactyly, Prominent nasal bridge, Microcephaly, Underdeveloped nasal... |
ORPHA:96169 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Pectus excavatum, Hypertelorism, Microcephaly |
OMIM:245349 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Stroke, Neutropenia, Failure to thrive, Pancr... |
ORPHA:79312 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Shukla-Vernon Syndrome |
|
Hypertelorism, Pectus excavatum, Long fingers, Tapered finger, Wide nasal base |
OMIM:301029 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Pectus excavatum, Muscular d... |
OMIM:617066 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... |
OMIM:614582 |
Waardenburg Syndrome Type 3 |
|
Telecanthus, Camptodactyly of finger, Blepharophimosis, Microcephaly, Atrial septal defect, Downs... |
ORPHA:896 |
Neutrophilic Dermatosis, Acute Febrile |
|
Elevated circulating C-reactive protein concentration, Dilated cardiomyopathy, Panniculitis, Smal... |
OMIM:608068 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Hypertelorism, Pectus excavatum, ... |
OMIM:104350 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Pectus carinatum, Clinodactyly of the 5th ... |
OMIM:115150 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Failure to thrive, Decreased serum iron, Dilated cardiomyopathy, Flexion... |
ORPHA:89842 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Goiter, Elevated circulat... |
ORPHA:90673 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:608013 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Posteriorly rotated ears, Congenital diaphragmatic hernia, Microceph... |
OMIM:263210 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Knee flexion contracture, Ab... |
OMIM:271665 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve, Hypospadias, Microcephaly, Hypertelorism, Cryptorchidism, Low-set ears, Cl... |
OMIM:300997 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... |
OMIM:249270 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia |
OMIM:619164 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Congenital hip dislocation, Decreased muscle mass, Narrow nasal ridge, ... |
OMIM:612940 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
External genital hypoplasia, Micrognathia, Flexion contracture, Tibial bowing, Deeply set eye, Na... |
ORPHA:96334 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Glyc... |
ORPHA:365 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperinsulinemia, Obesity, Hypergly... |
ORPHA:329249 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Abnormality of the ear, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... |
OMIM:208085 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Failure to thrive, Splenomegaly |
OMIM:269840 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... |
ORPHA:1908 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Hypertelorism, Wide nasal bridge, Cardiomyopathy, Proptosis, Secondary microcep... |
OMIM:618437 |
Tenorio Syndrome |
|
Hypoglycemia, Raynaud phenomenon, Macroglossia, Syncope, Macrocephaly, Hypoinsulinemia, Thick eye... |
OMIM:616260 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Hyperte... |
ORPHA:380 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic he... |
ORPHA:373 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Loeys-Dietz Syndrome 5 |
|
Pes planus, Decreased muscle mass, Scapular winging, Ventricular septal defect, Arachnodactyly, P... |
OMIM:615582 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Pectus excavatum, Ankle clonus,... |
OMIM:615398 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Edema, Pericardial effusion, Raynaud phenomenon, Pleural effusion, Ascites |
ORPHA:93552 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Pectus excavatum, Thoracic hypoplasia, Bowing of the legs |
ORPHA:156728 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Macrocephaly, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal heart valve morphology, Thickened helices, Abnormal m... |
ORPHA:1340 |
Lambotte Syndrome |
|
Ventricular septal defect, Microcephaly, Hypertelorism, Atresia of the external auditory canal, P... |
OMIM:245552 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Elbow contracture, Allergic rhinitis, Hypertelorism, Pectus excavatum, 2-3 toe syndac... |
OMIM:618162 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Relative macrocephaly, Posteriorly rotated ears, Bicuspid aortic valve, Broad hallux, Micrognathi... |
OMIM:618529 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Decreased muscle mass, Facial hypotonia, Highly arched eyebrow, Macrocephaly, Atrial septal defec... |
ORPHA:500533 |
Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Wide nose, Ventricular septal defect, Hearing impairment, Hypertelorism, Short nos... |
OMIM:614261 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Larsen Syndrome |
|
Short metatarsal, Pectus carinatum, Knee dislocation, Shallow orbits, Conductive hearing impairme... |
OMIM:150250 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Microcephaly, Abnormal heart morphology, Coarctation of aorta, Total a... |
ORPHA:261183 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Microcephaly... |
OMIM:246900 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Microcephaly, Splenomegaly, Jaundice, Patent ductus arte... |
ORPHA:290 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Abnormal tibia morphology, Hypoplastic labia ... |
ORPHA:64755 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Abnormality of the middle ear ossicles, Micr... |
ORPHA:2789 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... |
OMIM:614480 |
Zechi-Ceide Syndrome |
|
Wide nose, Sandal gap, Conductive hearing impairment, Short metatarsal, Abnormal earlobe morpholo... |
ORPHA:217017 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Bowing of the long bones, Micromelia, Microcephaly, Abnormal nasal morpholog... |
ORPHA:1798 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia, De... |
ORPHA:2849 |
Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,... |
ORPHA:769 |
Acitretin/Etretinate Embryopathy |
|
Microcephaly, Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricular block, ... |
ORPHA:40366 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
Tarp Syndrome |
|
Micrognathia, Atrial septal defect, Small earlobe, Low-set, posteriorly rotated ears, Finger synd... |
ORPHA:2886 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... |
ORPHA:361 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic... |
OMIM:617049 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Short stature, Splenom... |
ORPHA:93476 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Posteriorly rotated ears, Arachnodactyly, Depressed nasal bridge, Microcephaly, Metatarsus adduct... |
OMIM:612513 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Hepatomegaly... |
OMIM:602782 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Pectus excavatum, Thoracic scoliosis, Shield chest, Low-set ears |
OMIM:616994 |
Lymphatic Malformation 1 |
|
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo... |
OMIM:153100 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti,... |
ORPHA:488632 |
Koolen-De Vries Syndrome |
|
Prominent fingertip pads, Ventricular septal defect, Bicuspid aortic valve, Prominent nasal bridg... |
OMIM:610443 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Bicuspid aortic valve, Mitral atresia, Hypoglycemia, Increased hepatocellular li... |
OMIM:220111 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Osteopathia striata, Conductive hearing impairment, Clinodactyly of the 5th finger,... |
OMIM:300373 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia, Microcephaly |
OMIM:619814 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Short stature, Microcephaly, Dilated cardiomyopathy, Premature gra... |
OMIM:613989 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Microcephaly, Secundum atrial septal defect, Cryptorchidism, Abnormal 5th finger morp... |
ORPHA:1439 |
Melnick-Needles Syndrome |
|
Micrognathia, Tibial bowing, Narrow chest, Hypertelorism, Cone-shaped epiphyses of the phalanges ... |
OMIM:309350 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Hepatomegaly, Ventricular septal defect, Eosinophi... |
OMIM:616651 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... |
OMIM:614302 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Camptodactyly |
OMIM:610015 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:619868 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal art... |
ORPHA:51608 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Vascular ring, Knee flexion contracture, Long... |
OMIM:603387 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Congenital hip dislocation, Narrow nasal ridge, Hypertelorism, Pectus excavatum, Cryptorchidism, ... |
OMIM:219150 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Myopathy, Myofibrillar, 8 |
|
Pes planus, Scapular winging, Micrognathia, Centrally nucleated skeletal muscle fibers, Pectus ex... |
OMIM:617258 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... |
OMIM:278000 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Coffin-Siris Syndrome 5 |
|
Microcephaly, Long eyelashes, Atrial septal defect, Thick eyebrow, Ptosis |
OMIM:616938 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Macroglossia,... |
OMIM:615668 |
19P13.13 Microdeletion Syndrome |
|
Pes planus, Sandal gap, Anteverted nares, Depressed nasal bridge, Hypertelorism, Pectus excavatum... |
ORPHA:357001 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Elevated circulating creatine kinase concentration, Facial palsy, Microcephaly, Flexion contractu... |
OMIM:613155 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... |
OMIM:600920 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Microcephaly, Bifid nasal tip, Pectus excavatum, Mitral valve prolapse, Macrocephaly... |
OMIM:618874 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Thrombocytopenia... |
OMIM:607616 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Short humerus, Short femur, Skeletal muscle atrophy, Hypospadias, Microcephaly, Sen... |
ORPHA:17 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Situs inversus totalis |
OMIM:619881 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Brachydactyly, Micrognathia, Capitate-hamate fusion, Short toe, Wide nasal brid... |
OMIM:614078 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Arachnodactyly, Congenital diaphragmatic hernia, M... |
OMIM:208050 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice,... |
ORPHA:79301 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Pectus excavatum, Crypto... |
ORPHA:486815 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal pulmonar... |
ORPHA:648 |
Three M Syndrome 1 |
|
Pes planus, Scapular winging, Anteverted nares, Depressed nasal bridge, Hypospadias, Pectus excav... |
OMIM:273750 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Sprengel anomaly, Narrow chest, Atrial sep... |
OMIM:213980 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Congenital diaphragmatic herni... |
OMIM:614294 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Torticollis, Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Pseudoarthrosis |
OMIM:618155 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Micrognathia, Bowing of the legs, Flexion contracture, Narrow chest, Cryptorchidism, ... |
ORPHA:1865 |
3C Syndrome |
|
Hypoplasia of penis, Micrognathia, Abnormal tricuspid valve morphology, Atrial septal defect, Atr... |
ORPHA:7 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... |
ORPHA:1414 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Failure to thrive, Pulmonic stenosis, Microcephaly |
OMIM:619239 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Alkuraya-Kucinskas Syndrome |
|
Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion |
OMIM:617822 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Micrognathia, Microcephaly, Underdeveloped nasal alae, Bulbous nose, Flexion contracture, Cardiom... |
OMIM:616549 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Depressed nasal bridge, Thoracolumbar kyphoscoliosis, Hip subluxation, Pectus e... |
OMIM:618853 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Uppe... |
OMIM:169400 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Pectus excavatum, Sensorineural hearing impairment, Pectus carinatum, Abnormal meta... |
ORPHA:166100 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:614299 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Pulmonary embolism, Microcephaly, Megalo... |
ORPHA:79282 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Microcephaly, Secundum atrial s... |
OMIM:617397 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax |
ORPHA:93302 |
Mohr Syndrome |
|
Syndactyly, Depressed nasal bridge, Micrognathia, Broad nasal tip, Preaxial hand polydactyly, Pos... |
OMIM:252100 |
Neurofibromatosis-Noonan Syndrome |
|
Pectus excavatum of inferior sternum, Posteriorly rotated ears, Depressed nasal bridge, Hypertelo... |
OMIM:601321 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia |
ORPHA:100024 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Monosomy 18P |
|
Microcephaly, Micrognathia, Pectus excavatum, Wide nasal bridge, Protruding ear, Abnormal antihel... |
ORPHA:1598 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619386 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Epicanthus, Ventricular septal defect, Microcephaly |
OMIM:618506 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Microcephaly, Micrognathia, Cryptorchidism, Sensorineural hearing impairm... |
OMIM:616817 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnios, Diastasis recti, Spleno... |
OMIM:608149 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... |
ORPHA:73224 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... |
ORPHA:264580 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Ventricular septal defect |
OMIM:613730 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Prominent nose, Bilateral cryptorchidism, Clinodactyly of the 5th finger, Atrial septal defect, P... |
ORPHA:466791 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Pes planus, Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal ... |
ORPHA:476126 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ... |
ORPHA:97214 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Downslanted palpebral fissur... |
OMIM:620184 |
Al Kaissi Syndrome |
|
Pes planus, Torticollis, Abnormal pinna morphology, Posteriorly rotated ears, Depressed nasal bri... |
OMIM:617694 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Hypertelorism, Postaxia... |
ORPHA:2075 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Hepatomegaly, Overlapping toe, Anteverted nares, Hypertelorism, Flexion cont... |
OMIM:619383 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... |
ORPHA:3472 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Hydrops fetalis, Prolonged neonatal jaundice |
ORPHA:766 |
Leopard Syndrome 2 |
|
Depressed nasal bridge, Hypertelorism, Abnormal sternum morphology, Low-set ears, Hypertrophic ca... |
OMIM:611554 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Micrognathia, Microcephaly, Bulbous nose, Cupped ear, Wide nasal bridge, Atrial s... |
ORPHA:93946 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Highly arched eyebrow, Microcephaly, Flexion contracture, Long eyelash... |
OMIM:617452 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Microcephaly, Flexion contracture, Sinus bradycardia, Congenital contracture, Type I diabetes mel... |
OMIM:618397 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Epicanthus, Ventricular septal defect, Progressive macrocephaly, Leukemia, Downslanted palpebral ... |
OMIM:602501 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hypertelorism, Pectus excavatum, Hand polyda... |
OMIM:258860 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Pectus excavatum, Sensori... |
OMIM:108300 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect, Fetal pyelectasis, Limb hypertonia |
OMIM:301058 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Overweight, Patent ductus arteriosus, Persistence of hemoglobin F, Mac... |
OMIM:619769 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Microcephaly, Downslanted palpebral fissures, Atrial septal defect, Fa... |
OMIM:610883 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... |
ORPHA:99827 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu... |
ORPHA:556037 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope, Palmoplantar keratoderma |
OMIM:615821 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Small for gestational age,... |
OMIM:615160 |
Pyruvate Dehydrogenase Deficiency |
|
Hypertelorism, Pectus excavatum, Microcephaly, Osteolytic defects of the middle phalanx of the 4t... |
ORPHA:765 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Sudden cardia... |
ORPHA:156 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus ar... |
ORPHA:1120 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu... |
ORPHA:556030 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... |
ORPHA:100080 |
Farber Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic ja... |
ORPHA:333 |
Noonan Syndrome 5 |
|
Epicanthus, Large for gestational age, Sparse eyebrow, Pulmonic stenosis, Macrocephaly, Atrial se... |
OMIM:611553 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Micrognathia, Underdeveloped ... |
OMIM:608572 |
Beck-Fahrner Syndrome |
|
Pes planus, Ventricular septal defect, Facial hypotonia, Microcephaly, Cardiomegaly, Protruding e... |
OMIM:618798 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Abnormal pinna morphology, Anteverted nares, Proximal placement of thumb, Microcephal... |
OMIM:217980 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Pectus excavatum, Flexion cont... |
OMIM:611588 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Posteriorly rotated ears... |
OMIM:130720 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Prog... |
OMIM:610333 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Edema, Pericardial effusion, Splenomegaly, Hematemesis, Vasculitis, Hepatitis, Hema... |
OMIM:615846 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Broad nasal tip, Hypertelorism, De... |
ORPHA:166016 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Wide nasal bridge, Deeply set eye, Clinodactyly of the 5th finger, Pulmoni... |
OMIM:619149 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Patellar hypoplasia, Protruding ear, Congenital contracture, Clinodactyly of the 5th finger, Atri... |
ORPHA:261279 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Short stature, Cachexia, Splenomega... |
ORPHA:1133 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ... |
ORPHA:2126 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con... |
ORPHA:90051 |
Cardioacrofacial Dysplasia 2 |
|
Recurrent patellar dislocation, Hypertelorism, Postaxial hand polydactyly, Clubbing, Genu valgum,... |
OMIM:619143 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Skeletal muscle atrophy, Congenital muscular torticollis, Arachnodactyly, Post... |
ORPHA:2215 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Flexion contracture, Hypotelorism, Deeply set eye, G... |
OMIM:264090 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Posteriorly rotated ears, Anteverted nares, Microcephaly, Depressed nasal ... |
OMIM:613563 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Dextrocardia, Micrognathia, Cryptorchidism, Wide nasal bridge, Depressed... |
ORPHA:2863 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Rocker bottom foot, Hypo... |
OMIM:606851 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening... |
OMIM:602535 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Hypospadias, Micrognathia, Absent thumb, Short thumb, Prominent nose, ... |
OMIM:617516 |
22Q11.2 Duplication Syndrome |
|
Epicanthus, Ventricular septal defect, Microcephaly, Hypoplastic left heart, Transposition of the... |
ORPHA:1727 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Hypertrophic cardiomyopathy |
OMIM:613673 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Congenital diaphragm... |
OMIM:600001 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Myositis, Myocardial infar... |
ORPHA:3452 |
C Syndrome |
|
Micromelia, Micrognathia, Dislocated radial head, Hepatomegaly, Short metacarpal, Clitoral hypert... |
OMIM:211750 |
Tatton-Brown-Rahman Syndrome |
|
Epicanthus, Ventricular septal defect, Blepharophimosis, Narrow palpebral fissure, Horizontal eye... |
OMIM:615879 |
Cohen Syndrome |
|
Finger syndactyly, Ventricular septal defect, Arachnodactyly, Sandal gap, Microcephaly, Micrognat... |
ORPHA:193 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Depressed nasal ridge, Deeply set eye, Clinodactyly of the 5th finger, Condu... |
ORPHA:1606 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Thoracic kyphosis, Short palm, Clinodact... |
ORPHA:508498 |
Chromosome 18P Deletion Syndrome |
|
Barrel-shaped chest, Toe syndactyly, Posteriorly rotated ears, Anteverted nares, Micrognathia, Hy... |
OMIM:146390 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Intellectual Disability, Buenos-Aires Type |
|
Microcephaly, Hypertelorism, Wide nasal bridge, Pectus carinatum, Abnormal pelvic girdle bone mor... |
ORPHA:3079 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Abnormal placenta morphology, Macroglossia, ... |
ORPHA:79255 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Microcephaly, Insulin-resistant diabetes mellitus, Ca... |
ORPHA:401768 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Microcephaly, Abnormal aortic morphology, Blepharophimosis, Truncus ar... |
ORPHA:2516 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Failure to thrive, Bicuspid aortic valve |
OMIM:617744 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Hydrops fetalis, Hepatic... |
OMIM:263520 |
Poems Syndrome |
|
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites |
ORPHA:2905 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ven... |
OMIM:605676 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Microcephaly, Splenomeg... |
ORPHA:2585 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Abnormal foot morph... |
ORPHA:369891 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... |
OMIM:620152 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Depressed nasal ridge, Deeply set eye, Thickened helices, Conductive heari... |
OMIM:607872 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguo... |
ORPHA:1772 |
20Q13.33 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Hallux valgus, Pes planus, Facial hypotonia, Hypospadias, Decr... |
ORPHA:261311 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Sandal gap, Hypertelorism, Pectus excavatum, Cryptor... |
ORPHA:1812 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... |
ORPHA:565612 |
King-Denborough Syndrome |
|
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Bilateral ptosis, Downslan... |
OMIM:619542 |
6Q25 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Rocker bottom foot, Camptodactyly o... |
ORPHA:251056 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Microcephaly |
OMIM:601355 |
De Barsy Syndrome |
|
Decreased muscle mass, Congenital hip dislocation, Ventricular septal defect, Hypertelorism, Pect... |
ORPHA:2962 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Hip contracture, Bilateral fetal pyelectasis, Polyhydramnios, Microvesicular hepati... |
OMIM:300868 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Corneal scarring... |
OMIM:614653 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Abnormal aortic morphol... |
ORPHA:1166 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Arteriovenous malformation, Ascites |
ORPHA:584 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Posteriorly rotated ears, Short digit, Mult... |
OMIM:618143 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:617253 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:70 |
Cardiofaciocutaneous Syndrome 4 |
|
Pectus excavatum, Ventricular septal hypertrophy, Palmoplantar hyperkeratosis, Abnormal aortic va... |
OMIM:615280 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Ventricular septal defect, Patent ductus arteriosus, Abnor... |
ORPHA:163956 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Depressed nasal bridge, Hypertelorism, Wide nasal bridg... |
ORPHA:137834 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, Hypotelorism, Deeply set eye, Patent foramen ovale, Simple ear, Ant... |
OMIM:619325 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Death in infancy, Neutrophilia, Elevated hepatic transaminas... |
OMIM:619644 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dilated cardiomyopat... |
OMIM:253800 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Microcephaly, Pectus excavatum, Muscular ventricular septal defect, L... |
OMIM:619227 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Elev... |
ORPHA:228308 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... |
OMIM:300855 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Bilateral sensorineural hearin... |
OMIM:618321 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Abnormal cir... |
ORPHA:263455 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
Trichohepatoneurodevelopmental Syndrome |
|
Narrow chest, Clinodactyly of the 5th finger, Bilateral coxa valga, Simple ear, Hepatomegaly, Hyp... |
OMIM:618268 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Typical Nemaline Myopathy |
|
Facial palsy, Micrognathia, Pectus excavatum, Limb-girdle muscle weakness, Flexion contracture, H... |
ORPHA:171436 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Hypertelorism, Pectus... |
ORPHA:3219 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Foam cells with lamellar inclusion bodies, Elevated circulating ... |
OMIM:257200 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:608799 |
Allan-Herndon-Dudley Syndrome |
|
Macrocephaly at birth, Pes planus, Skeletal muscle atrophy, Microcephaly, Pectus excavatum, Crypt... |
ORPHA:59 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... |
OMIM:612541 |
Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Protruding ear, Knee flexion contractu... |
OMIM:614976 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pes planus, Torticollis, Broad hallux, Anteverted nares, Depressed nasal bridge, Tapered finger, ... |
OMIM:620224 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Long nose, Wide na... |
OMIM:619995 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... |
ORPHA:100082 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Structural foot deformity, Protruding ear, Deeply set eye, Clinodact... |
ORPHA:464306 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... |
ORPHA:3097 |
Wiedemann-Steiner Syndrome |
|
Brow ptosis, Epicanthus, Thick eyebrow, Highly arched eyebrow, Microcephaly, Blepharophimosis, Co... |
OMIM:605130 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Anteverted nares, Micrognathia, Hypertelorism, Cry... |
OMIM:619135 |
Distal Deletion 12Q |
|
Micrognathia, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clinodactyly of the 5th... |
ORPHA:96149 |
Ruijs-Aalfs Syndrome |
|
Pes planus, Skeletal muscle atrophy, Thoracic kyphoscoliosis, Down-sloping shoulders, Prominent n... |
OMIM:616200 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Prominent nasal bridge, Micrognathia, Hypertelorism, Pectus excavatum, Bulbous nose, Cupped ear, ... |
ORPHA:247262 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Ventricular septal defect, Anteverted nares, Microcephaly, Hypertelorism, Sensorineural hearing i... |
OMIM:220500 |
Fucosidosis |
|
Barrel-shaped chest, Hepatomegaly, Absent/hypoplastic paranasal sinuses, Wide nose, Depressed nas... |
OMIM:230000 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Arrhythmia |
ORPHA:35 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper... |
OMIM:619046 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Anteverted ears, Bilateral cryptorchidism, Deeply set eye, Long th... |
OMIM:616268 |
Osteogenesis Imperfecta, Type Xix |
|
Rhizomelia, Bowing of the legs, Pectus excavatum, Pectus carinatum, Bowing of the arm, Hearing im... |
OMIM:301014 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Synophrys, Neutropenia, Atrial septal defect, Downslante... |
OMIM:618067 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Microcep... |
ORPHA:96097 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Death in infancy, Ventricular septal d... |
OMIM:614576 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis, Stillbirth, Camptodactyly, Joint contracture of the hand, Patent foramen ovale |
OMIM:228520 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, F... |
ORPHA:349 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial s... |
ORPHA:2255 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Brachydactyly, Posteriorly rotated ears, Anteverted nares, Micrognathia, Hypertelorism, Bulbous n... |
OMIM:613604 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, Coxa vara, Pectus carinatum, Clitoral ... |
ORPHA:3107 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Abnormal vestibular function, Skeletal muscle atrophy, Scapular winging, Centrally nucleated skel... |
OMIM:607459 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Limb joint contracture, Ventricular septal defect, Highly arched eyebrow, Microcephaly, Long eyel... |
ORPHA:505237 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Relative macrocephaly, Wide nose, Tricuspid regurgitation, Ventricular septal defect, Thickened h... |
OMIM:617506 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Hurler Syndrome |
|
Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Hepatomegaly, Hypoplasia o... |
OMIM:607014 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Anteverted nares, Prominent nasal b... |
OMIM:227330 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati... |
ORPHA:228305 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Microcephaly, Pectus excavatum, Hypotelorism, Deeply set eye, Palmoplantar cutis laxa, Abnormal d... |
OMIM:268850 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Micrognathia, Coxa valga, Hypertelorism, Short thorax, Hip dislocation,... |
ORPHA:2484 |
Campomelia, Cumming Type |
|
Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Oligohy... |
ORPHA:1318 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
Orofaciodigital Syndrome Iii |
|
Hypertelorism, Pectus excavatum, Bulbous nose, Postaxial hand polydactyly, Postaxial foot polydac... |
OMIM:258850 |
Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Upslanted ... |
OMIM:617159 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Narrow chest, 2-5 toe syndactyly, Paten... |
OMIM:617746 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Macrocephaly, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Microretrognathia, Depressed nasal bridge, Postaxial hand polydactyly, Wide nasal bridge, Low-set... |
OMIM:220220 |
Omodysplasia 2 |
|
Micrognathia, Clitoral hypoplasia, Clinodactyly of the 5th finger, Micropenis, Dislocated radial ... |
OMIM:164745 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Syndactyly, Anteverted nares, Microcephaly, Hypertelorism, 2-3 toe syndactyly, ... |
OMIM:614701 |
49,Xxxyy Syndrome |
|
Low-set, posteriorly rotated ears, External genital hypoplasia, Abnormality of the testis size, M... |
ORPHA:261534 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive |
OMIM:230350 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Left ventricular hypertrophy, Mitral regurgitation, Pectus excavatum, Bicuspid aortic valve |
OMIM:617168 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down... |
OMIM:114300 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Pectus excavatum of inferior sternum, Brachydactyly, Small scrotum, Posteriorly rotated ears, Roc... |
OMIM:601353 |
Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Highly arched eyebrow, Patent ductus arteriosus, Synophrys, Abnormal cardi... |
OMIM:615009 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Pes planus, Anteverted nares, Prominent nasal bridge, Tapered finger, Microceph... |
OMIM:616977 |
2P15P16.1 Microdeletion Syndrome |
|
Protruding ear, Enlarged thorax, Facial palsy, Tapered finger, Wide nasal bridge, Low-set ears, A... |
ORPHA:261349 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Jaundice, Vasculitis, Congesti... |
ORPHA:2331 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect |
OMIM:612527 |
Malan Overgrowth Syndrome |
|
Depressed nasal bridge, Pectus excavatum, Slender long bone, Deeply set eye, Macrocephaly |
ORPHA:420179 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Pectus carinatum, Narrow greater sciatic notch, Short palm, Atri... |
OMIM:312870 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe... |
OMIM:614300 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Depressed nasal bridge, Short hallux, Proximal placement of... |
ORPHA:90650 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Mic... |
OMIM:613404 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Anteverted nares, Microcephaly, Hypertelorism, Cryptorchidism, Sensorineur... |
OMIM:243310 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Ventricular septal defect,... |
ORPHA:2008 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Anteverted nares, Depressed nasal bridge, Prominent nose, Hypertelorism, Bulbous nose... |
ORPHA:2180 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Lymphedema |
OMIM:223350 |
Acrodysostosis |
|
Micromelia, Short metatarsal, Depressed nasal ridge, Hypoplasia of the ulna, Short metacarpal, An... |
ORPHA:950 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Pectus excavatum, Short nose, Depressed nasal bridge, Macrocephaly |
ORPHA:2835 |
Snijders Blok-Campeau Syndrome |
|
Prominent nose, Hypertelorism, Abnormal foot morphology, Wide nasal bridge, Macrocephaly, Perimem... |
OMIM:618205 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Skeletal muscle atrophy, Anteverted nares, Pectus excavatum, Asymmetry of the ... |
ORPHA:1969 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Epispadias, Abnormality of the ear, Abnormal fallo... |
ORPHA:2556 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracrani... |
ORPHA:3260 |
X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Microcephaly, Hypertelorism, Cryptorchidi... |
ORPHA:85323 |
Alazami Syndrome |
|
Sparse eyebrow, Abnormality of the orbital region, Mild microcephaly, Narrow palpebral fissure, A... |
ORPHA:319671 |
Genitopatellar Syndrome |
|
Small scrotum, Hypoplastic ischia, Micrognathia, Prominent nose, Knee flexion contracture, Short ... |
ORPHA:85201 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... |
ORPHA:273 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Protruding ear, Hypotelorism, Narrow chest, Hepatomegaly, Rhizomelia, Ante... |
OMIM:218330 |
Galactosialidosis |
|
Conjunctival telangiectasia, Cherry red spot of the macula, Nonimmune hydrops fetalis, Hepatosple... |
OMIM:256540 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Clinodactyly of the 5th finger, Pectus excavatum, Pes cavus, Bilateral sensorineural hearing impa... |
OMIM:619422 |
Craniofrontonasal Syndrome |
|
Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hernia, Hypertelor... |
OMIM:304110 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Prominent nasal bridge, Ankle flexion contractur... |
ORPHA:464311 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic dissection, ... |
ORPHA:397 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hair... |
OMIM:612289 |
Penoscrotal Transposition |
|
Hypospadias, Abnormal external genitalia, Micrognathia, Penoscrotal transposition, Patellar aplas... |
ORPHA:2842 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Epispadias, Pectus carinatum, Abnormal penis morphology, A... |
ORPHA:2461 |
7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Deeply set eye, Atrial septal defect, Chronic otit... |
ORPHA:96121 |
Ayme-Gripp Syndrome |
|
Pericarditis, Brachydactyly, Posteriorly rotated ears, Depressed nasal bridge, Tapered finger, Hy... |
OMIM:601088 |
Lethal Acantholytic Erosive Disorder |
|
Abnormal pinna morphology, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyop... |
ORPHA:158687 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Lower limb muscle weakne... |
ORPHA:268 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Anauxetic Dysplasia 1 |
|
Barrel-shaped chest, Hip contracture, Rhizomelia, Hypertelorism, Hypoplastic ilia, Short toe, Fla... |
OMIM:607095 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Microcephaly, Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy |
ORPHA:391428 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Pes planus, Osteoarthritis of the small joints of the hand, Uterine prolaps... |
ORPHA:284984 |
Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
ORPHA:1842 |
Sweet Syndrome |
|
Acute myeloid leukemia, Myositis, Neutrophilia, Elevated circulating C-reactive protein concentra... |
ORPHA:3243 |
Diaphanospondylodysostosis |
|
Myelomeningocele |
ORPHA:66637 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Downslanted palpebral fissures, Obesity |
ORPHA:1035 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... |
ORPHA:100075 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hypoparathyroidis... |
ORPHA:199299 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Wide nose, Ventricular septal defect, Prominent nasal brid... |
ORPHA:3255 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Coarctation ... |
OMIM:618494 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia |
ORPHA:26137 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Cranioectodermal Dysplasia 4 |
|
Anteverted nares, Pectus excavatum, Protruding ear, Hip dysplasia, Cutaneous finger syndactyly, N... |
OMIM:614378 |
Noonan Syndrome 13 |
|
Pes planus, Posteriorly rotated ears, Overlapping toe, Anteverted nares, Microcephaly, Micrognath... |
OMIM:619087 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Hypotel... |
ORPHA:536545 |
Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Microretrognathia, Finger syndactyly, Hypospadias, Microcephal... |
ORPHA:1786 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Postaxial polydactyly, Lateral cla... |
OMIM:615503 |
Alpha-Mannosidosis |
|
Hepatomegaly, Inguinal hernia, Hypertelorism, Splenomegaly, Macroglossia, Type II diabetes mellit... |
ORPHA:61 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Micrognathia, Clinodactyly, Flexion contracture, Protruding ear, Hypotel... |
OMIM:309590 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic... |
OMIM:601186 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Myofibrillar myopathy, Cardiomyopathy, Hyporeflexia of lower limbs, EMG: myo... |
OMIM:609452 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Raine Syndrome |
|
Mixed hearing impairment, Bowing of the long bones, Abnormal pinna morphology, Posteriorly rotate... |
OMIM:259775 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... |
ORPHA:829 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... |
OMIM:603909 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Pes planus, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Pectus excav... |
OMIM:130000 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Metaphyseal widening, Pectus carinatum, Arachnodactyly... |
ORPHA:536467 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Sparse eyebrow, Coarctation of aorta, Pulmonic stenosis, Downslanted p... |
OMIM:616559 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal vestibular function, Ragged-red muscle fibers, Dilated cardiomyopathy, Bilateral sensori... |
ORPHA:70595 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Jaundice, Hepatitis, Endocarditis, Lymphad... |
ORPHA:549 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Barrel-shaped chest, Hepatomegaly, Depressed nasal ... |
OMIM:226980 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... |
OMIM:300952 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Depressed nasal bridge, Bilateral cryptorchidism, Pectus excavatum, Low-set ears, Macrotia |
ORPHA:314575 |
Teebi Hypertelorism Syndrome 1 |
|
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Hypertelorism,... |
OMIM:145420 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal size of the palpebral fissures, Microc... |
ORPHA:500159 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hyperinsulinemia, Obesity, Type II diabetes mellit... |
ORPHA:3085 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Jaundice, Hepatitis, Hepatic n... |
ORPHA:90062 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Cardiac conduction abnormality,... |
ORPHA:699 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Small for gestational age, Ventricular septal defect, Thin eyebrow, Microcephaly |
OMIM:617635 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Polyhydramnios |
ORPHA:93274 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... |
OMIM:253700 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Dorsocervical fat pad, Paradoxical... |
ORPHA:189427 |
Chromosome 9P Deletion Syndrome |
|
Micrognathia, Atrial septal defect, Micropenis, Long toe, Anteverted nares, Depressed nasal bridg... |
OMIM:158170 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Posteriorly rotated ears, Ventricular septal defect, Anteverted nares, Mic... |
OMIM:619980 |
Chromosome 16Q22 Deletion Syndrome |
|
Posteriorly rotated ears, Broad hallux, Depressed nasal bridge, Micrognathia, Microcephaly, Hyper... |
OMIM:614541 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Absent frontal sinuses, Knee flexion contracture, Increased density of l... |
OMIM:305620 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Posteriorly rotated ears, Overlapping toe, Micrognathia, Prominent nose, Hypert... |
OMIM:201170 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Myocardial infarctio... |
ORPHA:95409 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Pectus excavatum, Pectus carinatum, Microcephaly |
OMIM:259410 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Vascular calcification, Thromboc... |
OMIM:231000 |
Fetal Encasement Syndrome |
|
Decreased fetal movement, Tetralogy of Fallot, Congenital diaphragmatic hernia |
OMIM:613630 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h... |
OMIM:180700 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Mixed hearing impairment, Short femur, Depressed nasal bridge, Talipes, Micrognathia,... |
OMIM:300990 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Polyhydramnios |
ORPHA:261272 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Ventricular septal defect, Posteriorly rotated ears, Camptodactyly of finger, M... |
OMIM:616920 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ... |
ORPHA:90791 |
Fetal Alcohol Syndrome |
|
Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Microcephaly, Biparietal narrowing, Atr... |
ORPHA:1915 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elev... |
OMIM:617872 |
Emanuel Syndrome |
|
Thickened nuchal skin fold, Decreased fetal movement, Torticollis, Ventricular septal defect, Tru... |
OMIM:609029 |
Hennekam Syndrome |
|
Camptodactyly of finger, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectas... |
ORPHA:2136 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Aplasia of the thymus, Patent ductus arteriosus, T lymphocytopenia, Contracture of th... |
OMIM:618223 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Hypospadias, Micrognathia, Microcephaly, Hypertelorism, Short ... |
ORPHA:98791 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Polyhydramnios |
ORPHA:2655 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc... |
ORPHA:99826 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Bangstad Syndrome |
|
Short stature, Microcephaly, Abnormality of the parathyroid gland, Hyperinsulinemia, Deeply set e... |
ORPHA:1227 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
German Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Hearing abnormality, Cryptorchidis... |
ORPHA:2077 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Coarctation of aorta |
ORPHA:268249 |
Diabetic Embryopathy |
|
Ventricular septal defect, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ... |
ORPHA:1926 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul... |
OMIM:616828 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Congenital diaphragmatic hernia, Depressed n... |
OMIM:222448 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Facial hypotonia, Premature birth, Polyhydramnios |
OMIM:611087 |
Pediatric-Onset Graves Disease |
|
Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Intrauterine growth r... |
ORPHA:525731 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect... |
ORPHA:84064 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Micrognathia, Prominent nose, Protruding ear, Hypotelorism, Deeply set eye... |
OMIM:612474 |
Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Hypo... |
OMIM:619991 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, Pulmonary arterial hyperten... |
OMIM:614857 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Vertigo, Hearing impairment, Cardiomegaly |
ORPHA:3137 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Highly arched eyebrow |
ORPHA:94066 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Epicanthus, Ventricular septal defect, Microcephaly, Synophrys, Tetralogy of Fallot, Downslanted ... |
ORPHA:3306 |
Immunodeficiency 54 |
|
Hepatomegaly, Microcephaly, Splenomegaly, Lymphadenopathy, Failure to thrive, Reduced natural kil... |
OMIM:609981 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Premature thelarche, Micrognathia, Prominent nose, ... |
OMIM:180849 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Premature thelarche, Protruding ear, Deeply set eye, Micropenis, Hypospadias, Tapered finger, Abn... |
ORPHA:268261 |
Steel Syndrome |
|
Carpal synostosis, Pes planus, Anteverted nares, Hypertelorism, Sensorineural hearing impairment,... |
OMIM:615155 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Microcephaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopen... |
ORPHA:397596 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Turnpenny-Fry Syndrome |
|
Prominent interphalangeal joints, Pectus carinatum, Long thorax, Narrow chest, Conductive hearing... |
OMIM:618371 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Muscular ventricular septal defect, Wide nasal bridge, Perimembranous ventric... |
OMIM:618804 |
Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale, Oligohydramnios |
OMIM:616854 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Cardiac arrest, Myocarditis, ... |
ORPHA:139402 |
Orofaciodigital Syndrome Type 3 |
|
Hypertelorism, Pectus excavatum, Bulbous nose, Postaxial hand polydactyly, Postaxial foot polydac... |
ORPHA:2752 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Prominent protruding coccyx, Protruding ear, Deeply set eye, Thickened helices, Chronic otitis me... |
OMIM:300966 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransfer... |
OMIM:608779 |
Osteogenesis Imperfecta, Type Ix |
|
Pectus excavatum, Pectus carinatum, Short lower limbs, Beaded ribs |
OMIM:259440 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Uplifted earlobe, Micrognathia, Micropenis, Patent foramen ovale, Anteve... |
OMIM:619841 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,... |
OMIM:616028 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Micrognathia, Clinodactyly, Clitoral hypoplasia, Micropenis, Short phala... |
OMIM:616894 |
Distal Duplication 17Q |
|
Low-set, posteriorly rotated ears, Hallux valgus, Arachnodactyly, Rhizomelia, Overlapping toe, Mi... |
ORPHA:3379 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Failure to thrive |
ORPHA:172 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Arachnodactyly, Myocardial infarction, Pectus excavatum, Pectus carinatum, Mitral valve prolapse |
OMIM:236200 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Dilation of Virchow-Robin spaces, Large for gestational age, Splenomegaly, Obesity,... |
OMIM:605309 |
Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Pectus carinatum, Cortical thickening of long bone diaphyses, Otitis media, Hypop... |
ORPHA:309282 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Pes planus, Bowing of the legs, Coxa valga, Pectus excavatum, Coxa vara, Bel... |
OMIM:619131 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Shallow orbits, Dystrophic fingernails, Absent ey... |
ORPHA:740 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Short Stature, Dauber-Argente Type |
|
Short stature, Microcephaly, Postnatal growth retardation, Fasting hyperinsulinemia, Increased in... |
OMIM:619489 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Pineal cyst, Cholecystitis, Hepatic s... |
ORPHA:98908 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Pes planus, Decreased muscle mass, Thoracic scoliosis, Abnormal pinna morphology, Thoracic kyphos... |
ORPHA:1900 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Houge-Janssens Syndrome 3 |
|
Epicanthus, Microcephaly, Muscular ventricular septal defect, Macrocephaly, Atrial septal defect |
OMIM:618354 |
16P12.1P12.3 Triplication Syndrome |
|
Unilateral ptosis, Epicanthus, Thick eyebrow, Abnormal heart morphology, Abnormal tricuspid valve... |
ORPHA:485405 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... |
OMIM:306000 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Micromelia, Micrognathia, Coxa vara, Sprengel anomaly, Pectus carinatum,... |
ORPHA:800 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Pectus excavatum, Right bundle branc... |
OMIM:618590 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Epicanthus, Telecanthus, Ventricular septal defect, Microcephaly, Upslanted palpebral fissure, At... |
OMIM:610536 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Prominent nose, Bilateral cryptorchid... |
OMIM:150230 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... |
ORPHA:355 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Missing ribs, Situs inversus totalis, Pectus excavatum, Short thorax, Rib fusion, B... |
OMIM:613686 |
Tatton-Brown-Rahman Syndrome |
|
Patent ductus arteriosus, Obesity, Narrow palpebral fissure, Aortic root aneurysm, Macrocephaly, ... |
ORPHA:404443 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Death in infancy, Splenomegaly, Leukocytosis, Death in adolescence, Death in childhood |
OMIM:618042 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Positional foot deformity, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Positional foot deformity, ... |
ORPHA:363958 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb |
|
Hypertelorism, Pectus excavatum, Abnormal heart morphology, Large hands, Low-set ears, Macrocepha... |
OMIM:613675 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Microcephaly, Micrognathia, Hypertelorism, Cryptorchidism, Protruding ... |
OMIM:619123 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:613027 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios |
ORPHA:139466 |
Shashi-Pena Syndrome |
|
Ptosis, Epicanthus, Dilation of Virchow-Robin spaces, Highly arched eyebrow, Patent ductus arteri... |
OMIM:617190 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Microcephaly, Patent duc... |
OMIM:617751 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Tachycardia, Elevated circulating creatine kinase co... |
ORPHA:94093 |
Pontocerebellar Hypoplasia, Type 17 |
|
Epicanthus, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, U... |
OMIM:619909 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Polyhydramnios |
ORPHA:96190 |
Chédiak-Higashi Syndrome |
|
Elevated hepatic transaminase, Epistaxis, Edema, Pericardial effusion, Splenomegaly, Jaundice, He... |
ORPHA:167 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Microcephaly, Long fingers, Hyper... |
OMIM:156610 |
Woods Syndrome |
|
3-4 finger cutaneous syndactyly, Ventricular septal defect, Wide nasal bridge, Low hanging columella |
OMIM:615236 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... |
OMIM:139210 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Hypotelorism, Deepl... |
OMIM:612651 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Deeply set eye, Hepatic steatosis, Accessory spleen, Hepatomega... |
OMIM:619418 |
Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hal... |
OMIM:300963 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Decreased muscle mass, Depressed nasal bridge, Micrognathia, Hypertelorism, Splenom... |
OMIM:261515 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Abnormal pinna morphology, Anteve... |
OMIM:309583 |
Achondrogenesis, Type Ii |
|
Stillbirth, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:200610 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... |
ORPHA:31150 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Myoc... |
ORPHA:319213 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho... |
ORPHA:254534 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Helsmoortel-Van Der Aa Syndrome |
|
Short 4th toe, Prominent fingertip pads, Clinodactyly of the 5th finger, Atrial septal defect, Br... |
OMIM:615873 |
Joubert Syndrome 37 |
|
Hepatomegaly, Wide nose, Posteriorly rotated ears, Anteverted nares, Postaxial polydactyly, Hyper... |
OMIM:619185 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Hypertelorism, Pectus excavatum, Thin ribs, Proptosis, Macrocephaly, Narrow il... |
OMIM:616294 |
Frontometaphyseal Dysplasia |
|
Micrognathia, Metaphyseal widening, Short metatarsal, Sprengel anomaly, Conductive hearing impair... |
ORPHA:1826 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Epicanthus, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Downslanted palpebr... |
OMIM:620075 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, C... |
OMIM:618886 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyo... |
OMIM:610505 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:264350 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... |
OMIM:121050 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Congenital diaphragmatic hernia... |
ORPHA:1596 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Depressed nasal bridge, Micrognathia, Precocious puberty, Pectus excavatum, Upper limb undergrowt... |
ORPHA:369837 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Autophagic vacuoles, Elevated circulating creatine kinase concent... |
OMIM:164310 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Gitelman Syndrome |
|
Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemia, Prominent U wave, A... |
ORPHA:358 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... |
OMIM:618495 |
Renpenning Syndrome 1 |
|
Micrognathia, Narrow foot, Protruding ear, Clinodactyly of the 5th finger, Atrial septal defect, ... |
OMIM:309500 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma |
ORPHA:882 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Conductive hearing... |
OMIM:280000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:616812 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... |
ORPHA:514 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Diabetes mellitus, Multiple joint contractures, Lipoatro... |
ORPHA:51 |
Nail-Patella Syndrome |
|
Pes planus, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Pectus ... |
OMIM:161200 |
Vitamin K Antagonist Embryofetopathy |
|
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Pectus excavatum, Flared metaph... |
OMIM:615349 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Pes cavus, Ventricular septal defect, Micrognathia, Hypertelorism, Pectus excavatum, Abnormal tib... |
ORPHA:363700 |
Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Micrognathia, Clitoral hypoplasia, Atrial septal defe... |
ORPHA:97360 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Polyhydramnios, Coarctation of aorta |
ORPHA:1923 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Micrognathia, Hearing abno... |
ORPHA:1352 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios |
OMIM:616546 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia... |
ORPHA:79240 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Short... |
OMIM:617102 |
Monosomy 13Q34 |
|
Pes planus, Posteriorly rotated ears, Epistaxis, Prominent nasal bridge, Microcephaly, Micrognath... |
ORPHA:96168 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Upslanted palpebral fissure, S... |
OMIM:613680 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Heart block, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Pect... |
ORPHA:175 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Triploidy |
|
Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, Intrauterine g... |
ORPHA:3376 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart... |
ORPHA:363444 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis, Hydrops fetalis |
OMIM:614091 |
Malan Syndrome |
|
Coxa valga, Pectus excavatum, Long fingers, Macrocephaly, Short nose |
OMIM:614753 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Bicuspid aortic valve, Microcephaly, Hypoplastic left heart, Macrocephaly, Atrial septal defect, ... |
OMIM:619721 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Telecanthus, Upslanted palpebral fissure, Secondary microcephaly, Atrial septal defect |
ORPHA:79113 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Microcep... |
OMIM:609069 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Biparietal narrowing, Microcephaly |
ORPHA:261190 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver... |
ORPHA:79319 |
Kabuki Syndrome 2 |
|
Epicanthus, Highly arched eyebrow, Microcephaly, Coarctation of aorta, Eversion of lateral third ... |
OMIM:300867 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Impaired glucose tolerance, Short stature, Splenomegaly,... |
OMIM:615630 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Microcephaly, Splenomegaly, Jaundice, Patent ductus ... |
OMIM:251290 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:177735 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Microcephaly, Splenomegal... |
OMIM:615673 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Congenital diaphragmatic hernia, Finger clinodactyly, Micropenis, Absent dist... |
ORPHA:1692 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Tachycardia, Eosinophilia,... |
ORPHA:98849 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Short stature, Small for gestational age, Precocious puberty, Insulin-resistant dia... |
OMIM:262190 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Short stature, Thrombocytopenia, Cerebellar hemorrhage,... |
OMIM:606054 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Short stature, Microcephaly, Ragged-... |
OMIM:530000 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Epicanthus, Telecanthus, Ventricular septal defect, Thick eyebrow, Highly arched eyebrow, Microce... |
OMIM:617360 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect, Epicanthus |
ORPHA:921 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Bilateral con... |
OMIM:602080 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Short stature, Splenomegaly, Growth delay, Increased muscle glycogen ... |
OMIM:261750 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Epicanthus, Ventricular septal defect, Lacrimal duct stenosis, Microcephaly, Patent ductus arteri... |
ORPHA:457193 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Protruding ear, Thick nasal septum, Pectus carinatum, Th... |
OMIM:303600 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Synostosis of carpal bones, Depress... |
ORPHA:90652 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... |
OMIM:243150 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr... |
ORPHA:1335 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Pes planus, Thoracic scoliosis, Arachnodactyly, Sandal gap, Phalangeal dislocation... |
ORPHA:536532 |
Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Anteverted nares, Microcephaly, Broad nasal tip, H... |
OMIM:615583 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Decreased muscle mass, Anteverted nares, Micrognathia, Hypertelorism, Metaphyseal w... |
ORPHA:73230 |
Al-Raqad Syndrome |
|
Atrial septal defect, Microcephaly |
OMIM:616459 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Pes planus, Micrognathia, Pectus excavatum, Abnormality of the lower limb, Abnormal thorax morpho... |
ORPHA:1979 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia |
OMIM:602196 |
Proximal Xq28 Duplication Syndrome |
|
Pectus excavatum, Cryptorchidism, Hypospadias |
ORPHA:1762 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Pe... |
OMIM:263750 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Neurofaciodigitorenal Syndrome |
|
Abnormal distal phalanx morphology of finger, Prominent nasal bridge, Hypertelorism, External ear... |
ORPHA:2673 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Epicanthus, Small for gestational age, Ventricular septal defect, Microcephaly, Blepharophimosis,... |
OMIM:614114 |
Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Hypertelorism, Postnatal growth retardation, Obesity, Hypotelo... |
ORPHA:439822 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Pes planus, Small scrotum, Posteriorly rotated ears, Depressed nasal bridge, Uplifted earlobe, Mi... |
OMIM:616734 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Micrognathia, Sprengel anomaly, Micropenis, Cryptorchidism, Humeroradial... |
OMIM:134780 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Pectus carinatum, Thickened helices, Small earlobe, Long toe, Arachnodacty... |
ORPHA:3063 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Pes planus, Scapular winging, Congenital hip dislocation, Hypoplasia of the mu... |
OMIM:278250 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Hypot... |
OMIM:618454 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Micrognathia, Pectus excavatum, Increased variability in muscle fiber diameter, Hypotelorism, Inc... |
ORPHA:502423 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Hypogonadotropic hypogonadism, Microcephaly, Externa... |
ORPHA:251066 |
Wiedemann-Rautenstrauch Syndrome |
|
Congenital malformation of the left heart, Wide penis, Abnormality of the ear, Hypoplastic verteb... |
ORPHA:3455 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Short stature, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occ... |
ORPHA:2311 |
Cousin Syndrome |
|
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Deeply set eye, Ambiguous... |
OMIM:260660 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pes planus, Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Darwin tubercle o... |
OMIM:619122 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... |
ORPHA:905 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, Anteriorl... |
OMIM:276820 |
Johanson-Blizzard Syndrome |
|
Fair hair, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Atrial septal defect, H... |
OMIM:243800 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Rhabdomyosarcoma, Pectus excavatum, Plantar pits, Abnormal rib morphology, Cardi... |
ORPHA:77301 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Relative macrocephaly, Hallux valgus, Pes planus, Narrow nasal bridge, Ventricular septal defect,... |
OMIM:300967 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrh... |
ORPHA:449285 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Weight loss, Bone ma... |
ORPHA:47612 |
Takenouchi-Kosaki Syndrome |
|
Posteriorly rotated ears, Overlapping toe, Proximal placement of thumb, Tapered finger, Hypertelo... |
OMIM:616737 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Microretrognathia, Curved middle phalanx of the 4th toe, Arachnodactyly, Talipes, Anteverted nare... |
ORPHA:276413 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Hypoglycemia, Cardiac arrest, Premature thelarche, Microcephaly, E... |
OMIM:616878 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Microcephaly, Broad nasal tip, Hypertelorism, Wide nasal bridge, Shortening of all ... |
OMIM:614749 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Epicanthus, Almond-shaped palpebral fissure, Mitral valve prolapse, Secondary microcephaly, Atria... |
OMIM:300986 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Primary Pulmonary Hypoplasia |
|
Epicanthus, Dextrocardia, Abnormal hemidiaphragm morphology, Microcephaly, Secundum atrial septal... |
ORPHA:2257 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Epicanthus, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Atrial septal defect |
ORPHA:2519 |
Joubert Syndrome 18 |
|
Intrahepatic biliary atresia, Ventricular septal defect, Camptodactyly |
OMIM:614815 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Epicanthus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Congenital hip dislocation, Micrognathia, Hypertelorism, Fractures of th... |
ORPHA:496641 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Beaded ribs, Depressed nasal ridge, Tetraphocomelia, Hypoplastic verteb... |
OMIM:215140 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Protruding ear, Clin... |
ORPHA:235 |
Warsaw Breakage Syndrome |
|
Epicanthus, Tetralogy of Fallot, Ventricular septal defect, Microcephaly |
OMIM:613398 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d... |
ORPHA:99931 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Short stature, Camptodactyly of finger, Splenomegaly, Vasculitis, Macrocephaly, Del... |
ORPHA:575 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Hip contracture, Posteriorly rotated ears, Broad nasal tip, Prominent crus of h... |
OMIM:619194 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depres... |
OMIM:114290 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Pectus exc... |
OMIM:271225 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... |
ORPHA:79456 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Hypospadias, Prominent nasal bridge, Micrognathia, Pectus excavatum, Sensorineural hearing impair... |
OMIM:609944 |
Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Microcephaly, Highly... |
ORPHA:363528 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Microcephaly, Abnormal cardiac ventricle morphology, Patent ductus arterio... |
ORPHA:2306 |
White Forelock With Malformations |
|
Atrial septal defect, Epicanthus |
ORPHA:2475 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... |
ORPHA:54251 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Patent foramen ovale, Hepatomeg... |
OMIM:269860 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Failure to thrive, Cardiac conduction abnormality, Dilated cardiomyopathy, Low plas... |
ORPHA:255210 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Upslanted palpebral fissure, Ventricular septal ... |
ORPHA:75389 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Diastasis recti, Anteverted nares, Depressed nasal bridge, Pectus exca... |
ORPHA:254528 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Wide nose, Anteverted nares, Angina pectoris, Micrognathia, Pectus excav... |
ORPHA:109 |
Aymé-Gripp Syndrome |
|
Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Patent ductus arteriosus, Ca... |
ORPHA:1272 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Death in childhood, ... |
OMIM:601847 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Miscarriage, Splenomegaly, Peripheral arterial... |
ORPHA:71493 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Congenital hip dislocation, Ankle flexion contracture, Micrognathia, Hypoplasia ... |
ORPHA:2020 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Overlapping toe, Anteverted nares, Hypospadias, Micrognathia, Microcephaly, Underd... |
OMIM:613026 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Protruding ear, Atrial septal defect, Microretrognathia, Tricuspid regurgitation, Arachnodactyly,... |
OMIM:601776 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Polyhydramnios, Transposition of the great arteries, Absence of stomach bubble on f... |
OMIM:314390 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Ventricular septal defect, Hypospadias, Uplifted earlobe, Microcephaly, Hypertelor... |
OMIM:235730 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Premature birth, Polyhydramnios, Fetal pericardial effusion, Vascular ... |
OMIM:219730 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Arteriosclerosis, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Joubert Syndrome 3 |
|
Atrial septal defect, Epicanthus, Highly arched eyebrow, Ptosis |
OMIM:608629 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Epicanthus, Ventricular septal defect, Microcephaly |
OMIM:610832 |
Platyspondylic Dysplasia, Torrance Type |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Aplasia of the abdominal wall muscu... |
OMIM:100100 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly |
OMIM:614846 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Epicanthus, Sparse eyebrow, Camptodactyly, Atrial septal defect, Aortic va... |
ORPHA:459061 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Epicanthus, Small for gestational age, Dextrocardia, Megaloblastic anemia, Thromboc... |
OMIM:277380 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,... |
ORPHA:293978 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Shoulder dislocation, Shor... |
OMIM:143095 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymph... |
ORPHA:275761 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd toe, Microcephaly, Tapered finger, Muscular ventricular septal defect, Short thumb, Spl... |
OMIM:618569 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Microcephaly, Blepharophimosis, Patent ductus arteriosus... |
OMIM:300166 |
Seckel Syndrome 9 |
|
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic her... |
OMIM:616777 |
Sialuria |
|
Hepatomegaly, Hypertelorism, Splenomegaly, 2-3 toe syndactyly, Wide nasal bridge, Macroglossia, L... |
OMIM:269921 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Micrognathia, Microcephaly, Hypertelorism, Pectus excavatum, Hip dislocation, Dee... |
OMIM:617729 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Obesity And Hypopigmentation |
|
Red hair, Hepatic steatosis, Hyperinsulinemia, Obesity |
OMIM:620195 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Microcephaly, Vascular dilatation, Patent ductus arteriosu... |
ORPHA:2637 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arachnodactyly, Abnormal pinna morphology, Congenital diaphragmatic hernia, Micrognathia, Microce... |
OMIM:614437 |
Emanuel Syndrome |
|
Decreased fetal movement, Multiple joint contractures, Ventricular septal defect, Truncus arterio... |
ORPHA:96170 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic no... |
OMIM:617925 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Osteogenesis Imperfecta |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Abnormal femur morpholo... |
ORPHA:666 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Buratti-Harel Syndrome |
|
Epicanthus, Dilation of Virchow-Robin spaces, Atrial septal defect, Sparse medial eyebrow, Downsl... |
OMIM:619314 |
Campomelic Dysplasia |
|
Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia, Depressed n... |
ORPHA:140 |
Aa Amyloidosis |
|
Hepatomegaly, Cholestasis, Abnormal heart morphology, Adrenal insufficiency, Hypotension, Hypothy... |
ORPHA:85445 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Atri... |
OMIM:301068 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Epicanthus, Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Microcephaly, Sparse eyebrow... |
OMIM:619720 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Fasciitis, Myositis, Elevated circulating creatine kinase concentration, Myoc... |
ORPHA:36234 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Ventricular septal defect, Blepharophimosis, Patent ductus a... |
ORPHA:435638 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot... |
OMIM:115470 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Hooded eyelid, Sparse eyelashes, Patent ductus arteriosus, Dysplas... |
OMIM:612863 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphangiectasia, Telangiectasi... |
OMIM:137940 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Pancreatic fibrosis, Short stature, Hypertelo... |
OMIM:616263 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele |
ORPHA:60015 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis |
OMIM:618265 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natur... |
OMIM:616050 |
Phaver Syndrome |
|
Epicanthus, Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctat... |
ORPHA:2876 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Splenomegaly, Hepatomegaly, Hydrops fetalis, Prolonged neonatal jaundice |
OMIM:224120 |
Sandhoff Disease, Infantile Form |
|
Progressive macrocephaly, Hepatosplenomegaly, Mitral valve prolapse, Mitral regurgitation, Cherry... |
ORPHA:309155 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect, Microcephaly, Decreased body weight |
OMIM:618665 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Posteriorly rotated ears, Tapered finger, Broad nasal tip, Hypertelorism, Sensorineural hearing i... |
OMIM:239300 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Palmar telangiectasia, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral ... |
OMIM:607823 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Hypospadias, Microcephaly, Micrognathia, Bilateral choanal atresia/stenosis, Hypertel... |
ORPHA:314679 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... |
OMIM:314050 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Triphalangeal thumb, Fing... |
ORPHA:2378 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cardio... |
OMIM:251000 |
Radio-Tartaglia Syndrome |
|
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Microcephaly, Long eyebrows, Synoph... |
OMIM:619312 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Hepatic failure, Ascites, Anemia |
ORPHA:75233 |
Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Hypertelorism, Wide nasal bridge, Protruding ear, Tricuspid valve prol... |
ORPHA:1973 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Synophrys, Secondary microcephaly, Long eyelashes, Arthrogryposis mult... |
OMIM:614961 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Microcephaly, Neutropenia, Decreased body weight, Atrial septal defect... |
OMIM:609053 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... |
OMIM:230800 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... |
OMIM:264480 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Microcephaly, Leukocytosis, Wide nasal br... |
ORPHA:99812 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites, Pulmonary lympha... |
ORPHA:538 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Arterial rupture |
OMIM:619115 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect, Epicanthus, Failure to thrive, Secondary microcephaly |
OMIM:620242 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Facial palsy, Microcephaly, Absent eyelashes, Tetralogy of Fallot, Failure to thr... |
ORPHA:2316 |
Cohen Syndrome |
|
Small for gestational age, Microcephaly, Mitral valve prolapse, Leukopenia, Neutropenia, Childhoo... |
OMIM:216550 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cholestasis, Reduced number ... |
ORPHA:52 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,... |
ORPHA:100078 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranence... |
ORPHA:1393 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Laterally extended eyebrow, Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebr... |
OMIM:610759 |
Noonan Syndrome 1 |
|
Pectus excavatum of inferior sternum, Brachydactyly, Ventricular septal defect, Hypospadias, Micr... |
OMIM:163950 |
Alg3-Cdg |
|
Neural tube defect, Cardiomyopathy |
ORPHA:79321 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Failure to th... |
ORPHA:5 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Lim... |
OMIM:620327 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Pes planus, Wide nose, Ventricular septal defect, Micrognathia, Underdeveloped nasa... |
OMIM:619525 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Distal Xq28 Microduplication Syndrome |
|
Predominantly lower limb lymphedema, Epistaxis, Patent ductus arteriosus, Upper eyelid edema, Pat... |
ORPHA:293939 |
Nail-Patella Syndrome |
|
Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology,... |
ORPHA:2614 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... |
ORPHA:254346 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Epicanthus, Microcephaly, Upslanted palpebral fissure, Macroglossia, Atrial septal defect |
ORPHA:93947 |
Congenital Myopathy 17 |
|
Diaphragmatic eventration, Overlapping toe, Tapered finger, Pectus excavatum, Myopathy, Distal ar... |
OMIM:618975 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnor... |
ORPHA:39041 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, Pectus excavatum... |
ORPHA:1101 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Congenital diaphragma... |
ORPHA:199 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Telecanthus, Ventricular septal defect, Diastasis recti, Highly arch... |
OMIM:257920 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Telecanthus, Facial hypotonia, Mitral valve prolapse, Downslanted palpebral fissures, Camptodacty... |
OMIM:615539 |
Loeys-Dietz Syndrome 3 |
|
Bicuspid aortic valve, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, Atrial... |
OMIM:613795 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Microcephaly, Cryptorchidism, Sensorineural hearing impairm... |
ORPHA:250989 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Vertigo, Cardiomyopathy, Limb muscle weakness |
OMIM:619259 |
Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Ovarian fibroma, Down-sloping shoulders, Hypertelorism, Planta... |
OMIM:109400 |
Stevenson-Carey Syndrome |
|
Left superior vena cava draining to coronary sinus, Camptodactyly, Atrial septal defect, Joint co... |
OMIM:611961 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocho... |
ORPHA:14 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Cherry red spot of the macula, Failure to thrive |
OMIM:228000 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Epicanthus, Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Downslanted palpebral fi... |
OMIM:616901 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Microcephaly |
OMIM:619356 |
Desbuquois Syndrome |
|
Abnormal eyelash morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular se... |
ORPHA:1425 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Inguinal hernia, Severe short stature, Abnormal heart valve morphology, Short statu... |
OMIM:309900 |
Neonatal Marfan Syndrome |
|
Long toe, Tricuspid regurgitation, Arachnodactyly, Micrognathia, Long fingers, Abnormal cardiac v... |
ORPHA:284979 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:613812 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, ... |
OMIM:222765 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Steatorrhea, Hyper... |
OMIM:602579 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Upslanted palpebral fissure, Macroglossia, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Relative macrocephaly, Telecanthus, Palpebral edema, Patent ductus arteriosus, Hepatosplenomegaly... |
ORPHA:397709 |
Craniometaphyseal Dysplasia |
|
Depressed nasal bridge, Facial palsy, Hypertelorism, Sensorineural hearing impairment, Wide nasal... |
ORPHA:1522 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Contracture of the proximal interphalangeal joint of the 4th finge... |
OMIM:618109 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... |
ORPHA:96191 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Microcephaly, Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Premature birth, Abnormal pulmonary valve morphology, Portal hyperte... |
ORPHA:974 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric... |
ORPHA:75249 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Hypertelorism, Cryptorchidism, Wide nasal bridge, Abnormal heart morphology, Hearing... |
OMIM:601499 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect, Exocrine pancreatic insufficiency |
ORPHA:452 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Pes planus, Arachnodactyly, Bicuspid aortic valve, Transient ischemic attac... |
ORPHA:91387 |
Aase-Smith Syndrome I |
|
Flexion contracture, Ventricular septal defect, Ptosis |
OMIM:147800 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cardiomegaly, Adenoiditis, Flexion contracture, Atrioventricular bl... |
ORPHA:581 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Mixed hearing impairment, Hypertelorism, Pectus excavatum, Wide nasal bridge, A... |
OMIM:201180 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Clino... |
ORPHA:264450 |
Chromosome 18Q Deletion Syndrome |
|
Epicanthus, Absence of the pulmonary valve, Ventricular septal defect, Failure to thrive in infan... |
OMIM:601808 |
Gitelman Syndrome |
|
Prolonged QT interval, Hypomagnesemia, Rhabdomyolysis, Ventricular tachycardia, Growth delay, Hyp... |
OMIM:263800 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... |
OMIM:268800 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Growth delay, Increased circulating renin level, Hypotension, Failure... |
OMIM:203400 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Failu... |
OMIM:617591 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Hypospadias, Hypertelorism, Aplasia/Hypoplasia of the earlobes... |
ORPHA:1642 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Splenomegaly, Cryptorchidism, Elbow flexion contracture, Wide nasal bridge, Lacunar... |
OMIM:618440 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Diffus... |
OMIM:170100 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... |
ORPHA:289548 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Prominent eyelashes, Upslanted palpebral fissure, Long palpebral fissure, Failure t... |
OMIM:619179 |
Marfan Syndrome |
|
Decreased muscle mass, Genu recurvatum, Bicuspid aortic valve, Micrognathia, Equinus calcaneus, F... |
OMIM:154700 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Failure to thrive, Highly arched eyebrow, Microcephaly, Synophrys, Obesity, Conotruncal defect, C... |
ORPHA:96147 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Lymphedema, ... |
OMIM:235255 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... |
OMIM:200600 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Growth delay |
OMIM:614424 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Overweight, Sple... |
ORPHA:90041 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Microcephaly, Flexion contracture, Absen... |
OMIM:614098 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Proximal placement of thumb, Micrognathia, Short metatarsal, Protruding... |
OMIM:261540 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Epicanthus, Abnormal mitral valve morphology, Microcephaly, Biparietal narrowing, Atrial septal d... |
ORPHA:1292 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Elevated circulating luteinizing hormone leve... |
ORPHA:168558 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Microcephaly, Broad nasal tip, Hypertelorism, Sensorineural hearing impairment, Wide nasal bridge... |
OMIM:614207 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Depressed nasal bridge, Prominent nasal bridge, Pectus excavatum, Cryptorchidism, Cli... |
OMIM:618505 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hypertension, Hyperuricemi... |
ORPHA:134 |
Neurocardiofaciodigital Syndrome |
|
Small for gestational age, Microcephaly, Sparse eyebrow, Patent ductus arteriosus, Tetralogy of F... |
OMIM:619869 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Anteverted nare... |
OMIM:619879 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Epicanthus, Long palpebral fissure, Primary microcephaly |
OMIM:620183 |
Hurler Syndrome |
|
Hepatomegaly, Abnormal clavicle morphology, Abnormal heart valve morphology, Camptodactyly of fin... |
ORPHA:93473 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Microcephaly, Intrauteri... |
ORPHA:2609 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Tachycardia, Dupuytren contracture, Lipod... |
ORPHA:39812 |
Carpenter Syndrome 1 |
|
Epicanthus, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Obesity, Joint cont... |
OMIM:201000 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Hereditary Elliptocytosis |
|
Splenomegaly, Jaundice, Hydrops fetalis, Prolonged neonatal jaundice, Cholelithiasis |
ORPHA:288 |
Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, Leiomyosarcoma, Hepatob... |
ORPHA:116 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Anteverted nares, Hypertelorism, Broad ischia, ... |
OMIM:619727 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Premature adrenarche, Hyponatremia, ... |
ORPHA:90794 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp... |
ORPHA:158061 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Posteriorly rotated ears, Depressed nasal bridge, Postaxial polydactyly, Tapered finger, Lower li... |
OMIM:300968 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Pulmonary arterial hypertension, Pleural effusion |
OMIM:181000 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Growth delay, Secondary microcephaly, Bradycardia, Neutropenia, Failure to thrive, Neon... |
OMIM:617248 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Pseudoepiphyses, Conductive hearing impairment, Atrial septal de... |
OMIM:157800 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect, Sparse lateral eyebrow |
OMIM:617616 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology, Abnormal aorti... |
ORPHA:261197 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Microretrognathia, Abnormal pinna morphology, Hypospadias, Pectus excavatum, Talipes equinovarus,... |
OMIM:177980 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Le... |
ORPHA:36238 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Neonatal hypoglycemia, Car... |
OMIM:130650 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Rhizomelia, Microcephaly, Tapered finger, Hypertelorism, Pectus e... |
ORPHA:319182 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... |
OMIM:231005 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Short stature, Micro... |
ORPHA:98907 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Hallermann-Streiff Syndrome |
|
Prominent nasal bridge, Micrognathia, Microcephaly, Underdeveloped nasal alae, Metaphyseal wideni... |
OMIM:234100 |
Macs Syndrome |
|
Pes planus, Hypergonadotropic hypogonadism, Micrognathia, Pectus excavatum, Cryptorchidism, Wide ... |
OMIM:613075 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis, Epicanthus, Telecanthus, Patent ductus arteriosus after bir... |
ORPHA:251061 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Ventricular septal defect, Biparietal narrowing |
ORPHA:1770 |
Diamond-Blackfan Anemia 21 |
|
Unilateral ptosis, Microcephaly, Secundum atrial septal defect, Erythroid hypoplasia, Synophrys, ... |
OMIM:620072 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Premature birth, Cardiomegaly, Patent ductus arteriosus, Partial anoma... |
ORPHA:95430 |
Au-Kline Syndrome |
|
Overlapping toe, Wide nasal ridge, Postaxial polydactyly, Coxa valga, Prominent nasal bridge, Und... |
OMIM:616580 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase |
OMIM:617068 |
Ramos-Arroyo Syndrome |
|
Dacryocystitis, Patent ductus arteriosus, Nasolacrimal duct obstruction, Upslanted palpebral fiss... |
ORPHA:1051 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Microcephaly, Obesity, Biparietal narrowing, Macrocephaly, Camptodacty... |
ORPHA:251038 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Macrocephaly |
OMIM:618504 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Frontal balding, Weakness of fac... |
OMIM:602668 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Microcephaly, Aortic valve atresia, Macrocephaly, Double outlet right ... |
OMIM:619895 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia, Short stature, Microcephaly, Neutropenia, Atrial septal defect, Intrauterine growth... |
OMIM:618005 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Hypertelorism, Bilateral cryptorchidism, Congestive heart failure, Bulbo... |
OMIM:617403 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Short stature |
ORPHA:2031 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Inguinal hernia, Thick eyebrow, Short stature, Hypertelorism, Splenomegaly, Achille... |
OMIM:252940 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... |
ORPHA:457279 |
Watson Syndrome |
|
Relative macrocephaly, Posteriorly rotated ears, Hypertelorism, Pectus carinatum, Low-set ears, P... |
OMIM:193520 |
Mucopolysaccharidosis Type 1 |
|
Inguinal hernia, Abnormal heart valve morphology, Abnormality of the tonsils, Short stature, Cong... |
ORPHA:579 |
Rett Syndrome |
|
Increased serum pyruvate, Skeletal muscle atrophy, Hyperammonemia, Cholecystitis, Increased serum... |
ORPHA:778 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Downslanted palpebral fissures, Facial hypotonia |
OMIM:614526 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Posteriorly rotated ears, Facial palsy, Micrognathia, Large iliac wing, High iliac wing, Wide nas... |
ORPHA:2780 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Myocarditis, Cervical l... |
ORPHA:50918 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Anteverted nares, Micrognathia, Wide nasal bridge, Micropenis, Hydrocele testis, Hy... |
OMIM:618810 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Ventricular septal defect, Patent ductus arteriosus, Synophrys, Na... |
OMIM:620113 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Multiple pterygia, Microcephaly, E... |
OMIM:178110 |
Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Hepatic fibrosis, Hypoalbuminemia, Sparse hair, Hepatomegaly, Short stature, Increa... |
OMIM:222470 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, Neutropenia, Atrial ... |
ORPHA:124 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Hypertelorism, Mitral valve prolapse, Cone-shaped epiphysis, Sh... |
OMIM:614185 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Short stature, ... |
OMIM:232200 |
Wrinkly Skin Syndrome |
|
Pes planus, Decreased muscle mass, Congenital hip dislocation, Broad nasal tip, Hypertelorism, Cr... |
ORPHA:2834 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... |
ORPHA:228410 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Failure to thrive, Small for gestational age, Microcephaly |
OMIM:620194 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mi... |
OMIM:620233 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morphology, Cong... |
ORPHA:67 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Tibial bowing, H... |
OMIM:269150 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
19P13.3 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Microcephaly, Upslanted palpebral fissure, Do... |
ORPHA:447980 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hai... |
OMIM:252900 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Leukocytosis, Weight loss, Hypotension, Arrhythmia, Pancreatitis |
ORPHA:188 |
Branchioskeletogenital Syndrome |
|
Attached earlobe, Amelia involving the lower limbs, Mixed hearing impairment, Depressed nasal bri... |
ORPHA:1299 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Orthostatic hypotension due to au... |
OMIM:105210 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia, Weight loss |
ORPHA:221098 |
Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Jaundice, Anem... |
ORPHA:91547 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Unilateral cryptorchidism, Micrognathia, Micro... |
OMIM:613457 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Talipes, Microcephaly, Metatarsus adductus, Coxa valga, Avascu... |
ORPHA:2557 |
Schneckenbecken Dysplasia |
|
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:269250 |
Mitral Valve Prolapse 3 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:610840 |
Mitral Valve Prolapse 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:607829 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Microcephaly, Skeletal muscle hypertrophy, Decreased body weight, Fail... |
OMIM:617164 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Premature birth, Large placenta, Patent ductus arteriosus, Abnormal he... |
ORPHA:1708 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Ptosis, Blepharophimosis, Microcephaly |
ORPHA:2728 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... |
OMIM:618329 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hydrops fetalis, Macronodular c... |
OMIM:557000 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness ... |
OMIM:265000 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Depressed nasal bridge, Hypertelorism, Abnormal heart morphology, He... |
ORPHA:79076 |
Costello Syndrome |
|
Epicanthus, Ventricular septal defect, Failure to thrive in infancy, Mitral valve prolapse, Macro... |
ORPHA:3071 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve... |
OMIM:615962 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Pectus excavatum, Limb hypertonia, Overfolded helix, Microcephaly |
ORPHA:488613 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ascending aorta hypoplasia, Synophrys, Flexion contracture, Knee flexion contracture, Diaphragmat... |
OMIM:619503 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Short stature, Microcephaly, Proptosis, Hypo... |
ORPHA:2135 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
Mullegama-Klein-Martinez Syndrome |
|
Pes planus, Depressed nasal bridge, Facial palsy, Congenital diaphragmatic hernia, Microcephaly, ... |
OMIM:301022 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Anteverted nares, Depressed nasal bridge, Hypertelorism, Intraventricular hemorrhage,... |
OMIM:616430 |
Ververi-Brady Syndrome |
|
Upslanted palpebral fissure, Ptosis, Transposition of the great arteries, Microcephaly |
OMIM:617982 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hypophosphatemic rickets, Hepatomegaly, Ascites, Anemia, Elevated hepatic ... |
OMIM:276700 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Dilated cardiomyopathy, Abnormal blood ion concentration, Growth delay, Bradycardia, Na... |
ORPHA:79404 |
Kaufman Oculocerebrofacial Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Microcephaly, Sparse eyebrow, Blepharophimosi... |
OMIM:244450 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Arachnodactyly, Microcephaly, Pectus excavatum, Sensorineural hearing impairment, Camptodactyly, ... |
OMIM:610474 |
Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o... |
ORPHA:2369 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Aplasia/Hypoplasia o... |
ORPHA:646 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... |
OMIM:211600 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Relative macrocephaly, Epicanthus, Ventricular septal defect, Large for gestational age, Long eye... |
OMIM:607721 |
Opitz Gbbb Syndrome |
|
Abnormal nasopharynx morphology, Posteriorly rotated ears, Ventricular septal defect, Anteverted ... |
OMIM:300000 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Cachexia, Microcephaly, Sparse or absent eyelashes, Failure to thrive,... |
ORPHA:217346 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Splenomegal... |
OMIM:607765 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Abnormality of the spleen, Synophrys, Hypotelorism, Deeply set e... |
ORPHA:2162 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Car... |
OMIM:616483 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Micrognathia, Hypertelorism, Low-set ears, Micropen... |
OMIM:618021 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... |
OMIM:619608 |
Zellweger Syndrome |
|
Hepatomegaly, Death in infancy, Failure to thrive, Ventricular septal defect, Microcephaly, Jaund... |
ORPHA:912 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Genu recurvatum, Micrognathia, Flexion contracture, Pectus carinatum, Narrow chest, Dislocated ra... |
OMIM:130070 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia |
OMIM:617450 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Anteverted nares, Depressed nasal bridge, Asymmetry of the ears, Hypertelorism... |
OMIM:619124 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Death in infancy, Ele... |
OMIM:300972 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Secondary microcephaly, Death in childhood, ... |
OMIM:612938 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Hypospadias, Congenital diaphragmatic hernia... |
ORPHA:2059 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, Hernia, Hirsut... |
OMIM:252930 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Limbal dermoid, Eyelid coloboma, Subvalvular aortic stenosis, Atrial s... |
OMIM:613001 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Wide nose, Posteriorly rotated ears, Anteverted nares, Hypospadias, Hypertelorism,... |
OMIM:211380 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Growth delay, Bradycardia |
OMIM:608800 |
Chops Syndrome |
|
Ventricular septal defect, Microcephaly, Splenomegaly, Patent ductus arteriosus, Obesity, Anomalo... |
OMIM:616368 |
Cowden Syndrome 6 |
|
Micrognathia, Pectus excavatum, Progressive macrocephaly, Palmoplantar hyperkeratosis, Hydrocele ... |
OMIM:615109 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... |
OMIM:617093 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Depressed nasal bridge, Telangiectasia of the skin, Cardiomega... |
ORPHA:79280 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Glucose intolerance, Sparse hair, Lower limb muscle weakness, De... |
OMIM:606721 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Short stature, He... |
OMIM:232220 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Ventricular septal defect, Microcephaly, Atrial septal defect, Downslanted palpebral ... |
OMIM:616449 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect, Hypertelorism, Flexion contracture, Wide nasal bridge, Depressed nasal... |
OMIM:619306 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Leukocytosis, Vasculitis, Lymphadenopathy, Increased ... |
OMIM:617099 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... |
OMIM:612714 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus, Polyhydramnios |
ORPHA:1790 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Short stature, Camptodactyly of finger, Then... |
OMIM:607015 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Decreased muscle mass, Hip contracture, Premature birth, Nonimmune hydr... |
OMIM:208150 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity, Mitral valve prolapse |
ORPHA:2233 |
Sotos Syndrome |
|
Ventricular septal defect, Sparse eyebrow, Muscular ventricular septal defect, Patent ductus arte... |
OMIM:117550 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Microcephaly, Almond-shaped palpebral fissure, Epiblepharon, Downslant... |
OMIM:619103 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... |
ORPHA:59303 |
Stickler Syndrome Type 1 |
|
Short nose, Mitral valve prolapse |
ORPHA:90653 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ... |
ORPHA:131 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, Microcephaly, Pectus excavatum, Sensorineural hearing impairment, Narrow chest... |
OMIM:620237 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Small for gestational age, Microcephaly, Patent ductus arteriosus, Cor... |
OMIM:620024 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... |
OMIM:244300 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Microcephaly, Secundum atrial septal defect, Facial diplegia, Hypertrophic... |
OMIM:619121 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Facial hypotonia, Postaxial polydactyly, Anteverted nares, Hypertelorism, Pectus ex... |
ORPHA:457284 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
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Atrial septal defect, Pulmonic stenosis |
OMIM:618282 |
21Q22.11Q22.12 Microdeletion Syndrome |
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Failure to thrive in infancy, Microcephaly, Almond-shaped palpebral fissure, Anemia, Downslanted ... |
ORPHA:261323 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
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Ventricular septal defect, Sparse eyelashes, Absent eyelashes, Patent ductus arteriosus, Lacrimal... |
OMIM:106260 |
Majeed Syndrome |
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Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... |
ORPHA:77297 |
Polycythemia Vera |
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Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
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Secundum atrial septal defect, Decreased fetal movement, Hepatic failure, Hypertension |
OMIM:619758 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... |
OMIM:614736 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Microcephaly, Macrocephaly, Atrial septal defect, Downslanted palpebral fissures, Right atrial en... |
OMIM:615219 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis |
OMIM:617660 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
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Obesity, Mitral valve prolapse |
ORPHA:2183 |
Rere-Related Neurodevelopmental Syndrome |
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Epicanthus, Ventricular septal defect, Abnormal heart morphology, Blepharophimosis, Broad eyebrow... |
ORPHA:494344 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary collateral art... |
OMIM:620025 |
Lethal Kniest-Like Dysplasia |
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Atrial septal defect, Breech presentation, Polyhydramnios, Edema |
ORPHA:2347 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Jaundice, Intrahepa... |
OMIM:235555 |
Cowden Syndrome 5 |
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Micrognathia, Pectus excavatum, Progressive macrocephaly, Palmoplantar hyperkeratosis, Hydrocele ... |
OMIM:615108 |
Fish-Eye Disease |
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Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy, Atherosclerosis |
ORPHA:79292 |
Fanconi-Bickel Syndrome |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... |
OMIM:227810 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased proportion... |
OMIM:611926 |
Corticosteroid-Binding Globulin Deficiency |
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Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia |
OMIM:611489 |
Body Mass Index Quantitative Trait Locus 20 |
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Hyperinsulinemia, Obesity |
OMIM:618406 |
Long Qt Syndrome 9 |
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Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hepatomegaly, Inguinal hernia, Ventricular septal defect, Hypertelorism, Postnatal growth retarda... |
ORPHA:1655 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Ventricular septal defect, Microcephaly, Broad skull, Patent ductus arteriosus, Bilateral ptosis,... |
ORPHA:163979 |
Neurodevelopmental Disorder With Language Delay And Seizures |
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Ventricular septal defect |
OMIM:619908 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez... |
OMIM:617718 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Skeletal muscle atrophy, Highly arched eyebrow, Microcephaly, Secundum atrial septal defect, Upsl... |
OMIM:615802 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Ventricular septal defect, Highly arched eyebrow, Bilateral ptosis, Abnormal heart morphology, Up... |
ORPHA:404440 |
Erythrocytosis, Familial, 2 |
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Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
Neu-Laxova Syndrome 2 |
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Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
Lissencephaly 9 With Complex Brainstem Malformation |
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Epicanthus, Ventricular septal defect, Microcephaly |
OMIM:618325 |
Acrocallosal Syndrome |
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Clinodactyly of the 5th finger, Micropenis, Microretrognathia, Finger syndactyly, Hypospadias, Ta... |
OMIM:200990 |
Dengue Fever |
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Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... |
ORPHA:99828 |
Purine Nucleoside Phosphorylase Deficiency |
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Cerebral vasculitis, Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoi... |
OMIM:613179 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Intrahepatic biliary dysgenesis, Hepatomegaly, Aortic regurgitation, Tricuspid regurgitation, Ven... |
OMIM:614866 |
Toriello-Carey Syndrome |
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Brachydactyly, Abnormal pinna morphology, Microcephaly, Micrognathia, Cryptorchidism, Cardiomyopa... |
ORPHA:3338 |
Adult Acute Respiratory Distress Syndrome |
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Shock, Vasculitis, Diabetic ketoacidosis, Hypotension, Pancreatitis |
ORPHA:70578 |
Char Syndrome |
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Downslanted palpebral fissures, Patent ductus arteriosus, Ventricular septal defect, Ptosis |
ORPHA:46627 |
Hajdu-Cheney Syndrome |
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Micrognathia, Absent frontal sinuses, Pectus carinatum, Partial absence of toe, Hepatomegaly, Ant... |
ORPHA:955 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Small for gestational age, Flexion contracture, Ventricular septal defect, Microcephaly |
ORPHA:79243 |
Scrub Typhus |
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Splenomegaly, Myocarditis, Hypotension, Lymphadenopathy |
ORPHA:83317 |
C Syndrome |
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Low-set, posteriorly rotated ears, Toe syndactyly, Anteverted nares, Talipes, Micromelia, Microce... |
ORPHA:1308 |
Jacobsen Syndrome |
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Broad columella, Long hallux, Low-set, posteriorly rotated ears, Broad hallux phalanx, Finger syn... |
ORPHA:2308 |
Brachydactyly, Type B1 |
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Joint contracture of the hand, Ventricular septal defect, Camptodactyly |
OMIM:113000 |
Phace Association |
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Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Neuroendocrine Neoplasm Of Appendix |
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Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadeno... |
ORPHA:100079 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Small for gestational age, Short nose, Ventricular septal defect, Microcephaly |
ORPHA:3078 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Thoracic scoliosis, Micrognathia, Choanal stenosis, Conductive hearing impairment, Severe sensori... |
OMIM:620186 |
Immunodeficiency 36 With Lymphoproliferation |
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Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
Distal Triplication 15Q |
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Telecanthus, Large for gestational age, Patent ductus arteriosus, Flexion contracture, Hypoplasti... |
ORPHA:314588 |
Loeys-Dietz Syndrome 2 |
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Syndactyly, Pes planus, Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Micrognathia,... |
OMIM:610168 |
Okur-Chung Neurodevelopmental Syndrome |
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Broad hallux, Anteverted nares, Microcephaly, Micrognathia, Hypertelorism, Cupped ear, Wide nasal... |
OMIM:617062 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Foot joint contracture, Dilated cardiomyopathy, Flexion contracture, Anemia, Iron deficiency anem... |
ORPHA:79408 |
Fraser Syndrome 3 |
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Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... |
OMIM:617667 |
Cowden Syndrome 1 |
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Micrognathia, Pectus excavatum, Progressive macrocephaly, Palmoplantar hyperkeratosis, Hydrocele ... |
OMIM:158350 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Abnormal heart morphology, Macrog... |
ORPHA:453499 |
Yellow Fever |
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Shock, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentr... |
ORPHA:99829 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Fraser Syndrome 1 |
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Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Cutaneous finger syndactyly, Choanal stenosis, C... |
OMIM:219000 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Ventricular septal defect, Hypospadias, Hypertelorism, Cryptorchidism, Split hand, Clubbing, Tetr... |
OMIM:600460 |
Coffin-Siris Syndrome 4 |
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Narrow nasal bridge, Wide nose, Ventricular septal defect, Mitral atresia, Anteverted nares, Micr... |
OMIM:614609 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Broad eyebrow, Highly arched eyebrow, Microcephaly, Primary microcephaly, Atrial septal defect, T... |
ORPHA:457351 |
American Trypanosomiasis |
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Hepatomegaly, Myocarditis, Splenomegaly, Congestive heart failure, Lymphadenopathy, Cardiomyopath... |
ORPHA:3386 |
Osteopetrosis, Autosomal Recessive 4 |
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Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Agnathia-Otocephaly Complex |
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Secundum atrial septal defect, Polyhydramnios, Situs inversus totalis |
OMIM:202650 |
Short Qt Syndrome 2 |
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Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Wolf-Hirschhorn Syndrome |
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Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Chr... |
ORPHA:280 |
Goldberg-Shprintzen Syndrome |
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Aortic regurgitation, Ventricular septal defect, Prominent nasal bridge, Tapered finger, Microcep... |
OMIM:609460 |
Occipital Horn Syndrome |
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Pes planus, Short humerus, Orthostatic hypotension, Pelvic bone exostoses, Coxa valga, Pectus exc... |
OMIM:304150 |
Neonatal Inflammatory Skin And Bowel Disease |
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Left ventricular hypertrophy, Otitis externa |
ORPHA:294023 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bifid scrotum, Bicuspid aortic valve, Uplifted earlobe, Calcaneovalgus deformity, Flexion contrac... |
ORPHA:261537 |
Trichothiodystrophy 4, Nonphotosensitive |
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Epicanthus, Sparse eyelashes, Ventricular septal defect, Microcephaly, Keratoconjunctivitis sicca |
OMIM:234050 |
Velocardiofacial Syndrome |
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Ventricular septal defect, Microcephaly, Blepharophimosis, Narrow palpebral fissure, Interrupted ... |
OMIM:192430 |
Myopathy, Mitochondrial, And Ataxia |
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Micrognathia, Pectus excavatum, Distal amyotrophy, Increased variability in muscle fiber diameter... |
OMIM:617675 |
Optic Atrophy 8 |
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Mitral regurgitation, Mitral valve prolapse |
OMIM:616648 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Mucopolysaccharidosis Type 6 |
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Abnormal heart valve morphology, Splenomegaly, Disproportionate short-trunk short stature, Macrog... |
ORPHA:583 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Growth delay, Adrenal insuffici... |
ORPHA:427 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
Brucellosis |
|
Liver abscess, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Lymphadenopathy,... |
ORPHA:1304 |
Zaki Syndrome |
|
Congenital diaphragmatic hernia, Microcephaly, Sparse eyebrow, Patent ductus arteriosus, Patent f... |
OMIM:619648 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Aplastic anemia, Ventricular septal defect, Patent ductus arteriosus, Coarctati... |
OMIM:300514 |
White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia, Microcephaly, Patent ductus arteriosus, Obesit... |
OMIM:616364 |
Alexander Disease |
|
Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Hypertension, Hypotens... |
ORPHA:58 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Codas Syndrome |
|
Extrahepatic biliary duct atresia, Ventricular septal defect |
ORPHA:1458 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Arachnodactyly, Diastasis recti, Micrognathia, Prominent nose, Hype... |
OMIM:618971 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Facial hy... |
ORPHA:404454 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Death in infancy, CNS foam cells, Fetal ascites, Bone-marrow foam cells, Splenomega... |
OMIM:607625 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Micrognathia, Pr... |
ORPHA:904 |
Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Rhizomelia, Micrognathia, Coxa valga, Hypertelorism, Rib fusio... |
ORPHA:263508 |
Ogden Syndrome |
|
Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia |
ORPHA:276432 |
Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse |
OMIM:604308 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Enlarged thorax, Atrial septal defect... |
ORPHA:99413 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Mitral valve prolapse, Hypertension, Mitral regurgitation, Cerebral berry aneurysm |
OMIM:173900 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Enlarged thorax, Atrial septal defect... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Enlarged thorax, Atrial septal defect... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Enlarged thorax, Atrial septal defect... |
ORPHA:881 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Microcephaly, Splenomegal... |
OMIM:252010 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Anteverted nares, Narrow nasal tip, Hypospadias, Tapered finger, Hypertelorism, Short thumb, Cryp... |
ORPHA:477993 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Fanconi Anemia, Complementation Group F |
|
Microcephaly, Patent ductus arteriosus, Anemia, Leukopenia, Atrial septal defect, Failure to thri... |
OMIM:603467 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Collagenoma, Familial Cutaneous |
|
Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicular failure, Tricuspid regu... |
OMIM:115250 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Leukopenia, Hypoalbuminemia, Hernia, Atrial septal defect, Patent foramen ov... |
ORPHA:505248 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Arachnodactyly, Congenital diaphragmatic hernia, Microcephaly, Pectus excavatum, Supravalvular ao... |
OMIM:219100 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
Essential Thrombocythemia |
|
Transient ischemic attack, Myocardial infarction, Abnormal cerebral vascular morphology, Splenome... |
ORPHA:3318 |
Fragile X Syndrome |
|
Ascending tubular aorta aneurysm, Macrocephaly, Mitral valve prolapse |
ORPHA:908 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Epicanthus, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplas... |
OMIM:105650 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Upslanted palpebral fissure, Transpos... |
ORPHA:1780 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy... |
OMIM:145600 |
Okamoto Syndrome |
|
Primum atrial septal defect, Anteverted nares, Depressed nasal bridge, Hypertelorism, Bifid uteru... |
ORPHA:2729 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora... |
OMIM:614868 |
Fryns Syndrome |
|
Bifid scrotum, Proximal placement of thumb, Prominent fingertip pads, Atrial septal defect, Broad... |
OMIM:229850 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... |
ORPHA:63259 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Protruding ear, Tibial bowing, Deeply set eye, Long hallux, Hypertelorism, Large hands, Abnormal ... |
ORPHA:500095 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Arachnodactyly, Pulmonary embolism, Pectus excavatum, ... |
ORPHA:394 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Failure to thrive, Sple... |
OMIM:615512 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Failure to thrive, Co... |
OMIM:617388 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Hypoa... |
ORPHA:171 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Microcephaly, Blepharophimosis, Patent ductus arteriosus, Interrupted ... |
OMIM:300712 |
Colchicine Poisoning |
|
Hyponatremia, Alopecia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnorma... |
ORPHA:31824 |
Classic Multiminicore Myopathy |
|
Right ventricular failure, Congestive heart failure, Mitral valve prolapse, Failure to thrive, Ri... |
ORPHA:324604 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... |
ORPHA:2473 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevat... |
ORPHA:230 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Short stature, Delayed pu... |
ORPHA:79259 |
Bohring-Opitz Syndrome |
|
Epicanthus, Ventricular septal defect, Microcephaly, Flexion contracture, Upslanted palpebral fis... |
OMIM:605039 |
Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac wing, Aplastic ... |
ORPHA:198 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cuta... |
OMIM:270400 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Patent ductus arteriosus, Wide nasal bridge, Anemia |
ORPHA:30 |
Nablus Mask-Like Facial Syndrome |
|
Posteriorly rotated ears, Sandal gap, Short hallux, Tapered finger, Anteverted nares, Depressed n... |
OMIM:608156 |
Oculoectodermal Syndrome |
|
Epicanthus, Transient ischemic attack, Limbal dermoid, Patent ductus arteriosus, Coarctation of a... |
OMIM:600268 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short phalanx of fi... |
OMIM:266920 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ... |
OMIM:618914 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Overlapping toe, Hypospadias, Proximal placement of thumb, Mic... |
ORPHA:487796 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Microcephaly, Splenomegaly, Wide nasal bridge, Hepa... |
OMIM:608233 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Premature birth, Polyhydramnios, Con... |
OMIM:300998 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs |
OMIM:604919 |
Cholera |
|
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Deeply set eye, Hypovo... |
ORPHA:173 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Small for gestational age, Microcephaly, Reticulocytopen... |
OMIM:227645 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Vasculitis in the skin, Anemia |
OMIM:620296 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Hy... |
ORPHA:1752 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, ... |
ORPHA:818 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture,... |
OMIM:259050 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia, Short stature |
ORPHA:66518 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Lymphadenopathy, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Congenital... |
OMIM:611812 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Bicuspid aortic valve, Uplifted earlobe, Calcaneovalgus deformity, Flexion contrac... |
ORPHA:2152 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia, Primum atrial septal defect |
OMIM:615272 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Micrognathia, L... |
OMIM:258315 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Abnormal nasolacrimal system morphology, Micr... |
ORPHA:3047 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Flexion contracture, Hypotelorism, Clinodactyly of the 5th finger, Atrial ... |
OMIM:194050 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Toe syndactyly, Mitral atresia, Bulbous nose, Hypoplasia of the radius, Wid... |
ORPHA:140952 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Jaundi... |
OMIM:603553 |
Blomstrand Lethal Chondrodysplasia |
|
Premature birth, Hydrops fetalis, Polyhydramnios, Coarctation of aorta |
ORPHA:50945 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Abnorm... |
OMIM:214500 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Heart block, Elevated circulating creatinine concentr... |
ORPHA:542323 |
Spondylo-Ocular Syndrome |
|
Facial hypotonia, Abnormal eyebrow morphology, Ventricular septal defect |
ORPHA:85194 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Fetal ascites, Polyhydramnios, Ascending aorta hypoplasia, 5-minute AP... |
ORPHA:141127 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
ORPHA:2388 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Precocious atherosclerosis, Mitral valve prolapse, Stroke, Arrhythmia |
ORPHA:230839 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Ventricular septal defect, Posteriorly rotated ears, Congenital ... |
ORPHA:2745 |
Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Bicuspid aortic valve, Uplifted earlobe, Calcaneovalgus deformity, Flexion contrac... |
ORPHA:261552 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hip contracture, Dry hair, Short stature, Micr... |
OMIM:216400 |
Ring Chromosome 7 Syndrome |
|
Anteverted nares, Prominent nasal bridge, Hypospadias, Microcephaly, Situs inversus totalis, Prom... |
ORPHA:1449 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Keutel Syndrome |
|
Calcification of the auricular cartilage, Ventricular septal defect, Cartilaginous ossification o... |
OMIM:245150 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Khan-Khan-Katsanis Syndrome |
|
Failure to thrive, Patent ductus arteriosus after premature birth, Highly arched eyebrow, Microce... |
OMIM:618460 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Fetal ascites, Bone-marrow foam cel... |
OMIM:257220 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Micrognathia, Conductive hearing impairment, Atrial septal defect, Pseudoe... |
OMIM:194190 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Myositis, Splenomegaly, Flexi... |
OMIM:619183 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Otosclerosis, Micrognathia, Hypertelorism, Upper limb undergrowth, Wide na... |
ORPHA:529962 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Bowing ... |
OMIM:610682 |
Kury-Isidor Syndrome |
|
Downslanted palpebral fissures, Ventricular septal defect, Ptosis |
OMIM:619762 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Pulmonary artery stenosis, Increased nuchal translucency, Patent ductu... |
ORPHA:79345 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... |
OMIM:609008 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Arrhythmia, Patent foramen ovale |
OMIM:619184 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Cachexia, Splenomegaly, Abnormal subcutaneou... |
ORPHA:1328 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Microcephaly, Pulmonary ... |
ORPHA:261494 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Kleefstra Syndrome 1 |
|
Microcephaly, Synophrys, Obesity, Conotruncal defect, Upslanted palpebral fissure, Macroglossia |
OMIM:610253 |
Fg Syndrome Type 1 |
|
Progressive flexion contractures, Coarctation of aorta, Mitral valve prolapse, Downslanted palpeb... |
ORPHA:93932 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
You-Hoover-Fong Syndrome |
|
Hearing impairment, Microcephaly, Pectus excavatum, Clinodactyly, Brachydactyly |
OMIM:616954 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodact... |
ORPHA:217085 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Pectus excavatum, Sp... |
ORPHA:2072 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Prominent nose, Long nose, Bulbous nose, Depressed nasal ridge, ... |
ORPHA:2769 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Anteverted nares, Diastasis recti, Uplifted earlobe, Micrognathia, Broad nasal tip, Pectus excava... |
OMIM:618548 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... |
ORPHA:1572 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Pes planus, Scapular winging, Genu recurvatum, Microceph... |
OMIM:619539 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Ventricular septal defect, Microcephaly, Sparse eyebrow, Left superior vena cava drai... |
ORPHA:464738 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... |
OMIM:613239 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... |
OMIM:100300 |
Neurofibromatosis, Type I |
|
Rhabdomyosarcoma, Hypertelorism, Pectus excavatum, Tibial pseudarthrosis, Genu valgum, Hypertensi... |
OMIM:162200 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Narrow c... |
OMIM:119600 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Microcephaly, Splenomegaly, Mic... |
ORPHA:309854 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypotelorism, Deeply set eye, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Short stature, Po... |
OMIM:613658 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Epicanthus, Patent ductus arteriosus, Achilles tendon contracture, Synophrys, Knee flexion contra... |
OMIM:618076 |
Charge Syndrome |
|
Lymphopenia, Overriding aorta, Ventricular septal defect, Pulmonary artery atresia, Microcephaly,... |
OMIM:214800 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Long nose, Clinodactyly of the 5th finger, Atrial septal defect, Small earlobe, Anteverted nares,... |
OMIM:619522 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Thauvin-Robinet-Faivre Syndrome |
|
Epicanthus, Transient neutropenia, Ventricular septal defect, Large for gestational age, Mitral v... |
OMIM:617107 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodact... |
ORPHA:217093 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Epicanthus, Small for gestational age, Microcephaly, Embryonal rhabdomyosarcoma, Upslanted palpeb... |
OMIM:257300 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Wide nasal bridge, Mitral valve prolapse |
OMIM:247410 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Microcephaly, Asplenia, Patent d... |
OMIM:164280 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Severe short stature, Small for gest... |
OMIM:133540 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Hepatomegaly, Myocarditis, Mediastin... |
ORPHA:809 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu... |
OMIM:118450 |
2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Ventricular septal defect, Camptodactyly of finger, Microcephaly, Synophrys, Atrial s... |
ORPHA:251014 |
Pagod Syndrome |
|
Encephalocele, Short stature, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left... |
ORPHA:991 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Polyhydramnios, Rhabdomyosarcoma, Increased nuchal translucency, Coarctatio... |
ORPHA:1052 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, Shallow orbits, Phocomelia, Atrial septa... |
OMIM:268300 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur |
ORPHA:166035 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Hypospadias, Microcephaly, Micrognathia, Hypertelorism, Cryptorchidism, Male ps... |
ORPHA:2282 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Brachydactyly, Microcephaly, Underdeveloped nasal alae, Hypertelor... |
OMIM:311200 |
Atelis Syndrome 2 |
|
Microcephaly, Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, H... |
OMIM:620185 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo... |
ORPHA:580 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Premature birth, Congenital diaphragmatic hernia, Secundum atrial sep... |
ORPHA:2260 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Hearing impairment, Enlarged polycystic ovaries... |
ORPHA:201 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Epicanthus, Dilation of Virchow-Robin spaces, Microcephaly, Almond-shaped palpebral fissure, Bila... |
OMIM:619512 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Recurrent intrapulmonary hemorrhage, Narrow nasal ridge, Diffuse alveolar hemorrhage, Pectus exca... |
OMIM:130050 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Macrocephaly, Downslanted palpebral ... |
OMIM:250410 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Costello Syndrome |
|
Curly hair, Ventricular septal defect, Hypoglycemia, Short stature, Hypertelorism, Rhabdomyosarco... |
OMIM:218040 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Pes planus, Posteriorly rotated ears, Bicuspid aortic valve, Tibial torsion, Microcepha... |
OMIM:613355 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Microcephaly, Flexion contracture, Gener... |
OMIM:618891 |
Bilateral Perisylvian Polymicrogyria |
|
Choanal atresia, Microcephaly, Micrognathia, Pectus excavatum, Flexion contracture, Abnormality o... |
ORPHA:98889 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Oligohydramnios |
ORPHA:411709 |
Trisomy 18 |
|
Ventricular septal defect, Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosenceph... |
ORPHA:3380 |
Phelan-Mcdermid Syndrome |
|
Epicanthus, Ventricular septal defect, Palpebral edema, Microcephaly, Patent ductus arteriosus, L... |
OMIM:606232 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop... |
ORPHA:293173 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:609152 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Microcephaly, Pulmonary artery stenosis, Upslanted palpebral fissure, ... |
OMIM:301030 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Leukopenia, Atrial septal defect, Patent ductus arteriosus, Abnormal ... |
ORPHA:84 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Aortic root aneurysm, Mitral... |
ORPHA:96201 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Palmoplantar hyperkeratosis, Protrudi... |
OMIM:216340 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Pectus excavatum, Sensorineural hearing impairment, Dilated ve... |
OMIM:611584 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly |
OMIM:612852 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragm... |
OMIM:613309 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect, Downslanted palpebral fissures, Wrist flexion contracture, Peripheral pulmo... |
ORPHA:436003 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... |
ORPHA:3464 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Dry hair, Deeply set eye, Congenital contracture, Hepatomegaly, Contract... |
ORPHA:191 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Faciocardiomelic Syndrome |
|
Telecanthus, Microcephaly, Large for gestational age, Short eyelashes, Common atrium, Ptosis |
OMIM:612731 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Ventricular septal defect, Microcephaly, Tetralogy of Fallot, Downslanted palp... |
OMIM:174300 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Patent ductus arteriosus, M... |
OMIM:620005 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Camptodactyly of finger, Highly arched eyebrow, Secundum atrial... |
OMIM:619951 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Epicanthus, Congenital diaphragmatic hernia, Large for gestational age, Patent ductus arteriosus,... |
OMIM:614080 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Pes planus, Posteriorly rotated ears, Tapered finger, Pectus excavatum, Sensorineural hearing imp... |
OMIM:616973 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Finger syndactyly, Broad hallux phalanx, Abnormal penis morphology, Posteriorly ro... |
ORPHA:2211 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia... |
ORPHA:37042 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Microcephaly, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:209905 |
Gabriele-De Vries Syndrome |
|
Telecanthus, Facial hypotonia, Aortopulmonary collateral arteries, Sparse eyebrow, Epiblepharon, ... |
OMIM:617557 |
Dysosteosclerosis |
|
Ventricular septal defect, Macrocephaly |
ORPHA:1782 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Short stature, Small for gestational age, Hyp... |
OMIM:241200 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Ventricular septal defect |
OMIM:617895 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Microcephaly, Long nose, Decreased proportion of CD8-positive T cells, Hypereosinop... |
ORPHA:508533 |
Prolactinoma |
|
Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating ... |
ORPHA:2965 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, Conduc... |
ORPHA:2751 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio... |
OMIM:611881 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... |
OMIM:616084 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Short... |
OMIM:616026 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis |
OMIM:602522 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Highly arched eyebrow, Microcephaly, Blepharo... |
ORPHA:261330 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Acute pancreatitis, Increased circulating NT-proBNP concentrati... |
ORPHA:466677 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron... |
ORPHA:90033 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Bowing of the long bones, Tarsal synostosis, Micrognathia, Microceph... |
ORPHA:565 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Short sta... |
OMIM:601678 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Prominent eyelashes, Abnormal ... |
ORPHA:1465 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... |
OMIM:182250 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypertelor... |
ORPHA:306542 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... |
OMIM:277900 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Small scrotum, Micrognathia, Prominent nose, Knee flexion contracture... |
OMIM:606170 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis |
OMIM:249100 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss |
ORPHA:33577 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
Martin-Probst Syndrome |
|
Bifid scrotum, Micrognathia, Microcephaly, Hypertelorism, Sensorineural hearing impairment, Crypt... |
OMIM:300519 |
Sitosterolemia 1 |
|
Reticulocytosis, Carotid artery stenosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomat... |
OMIM:210250 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Loeys-Dietz Syndrome |
|
Pes planus, Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Hypertelorism, Micrognathia,... |
ORPHA:60030 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries, Congenital diaphra... |
OMIM:313850 |
Zimmermann-Laband Syndrome 1 |
|
Short distal phalanx of toe, Hepatomegaly, Hyperextensibility of the finger joints, Posteriorly r... |
OMIM:135500 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Pes planus, Wide nose, Broad hallux, Arachnodactyly, Prominent nasal bridge, Prominent nose, Pect... |
OMIM:601552 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Duane-Radial Ray Syndrome |
|
Epicanthus, Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia... |
OMIM:607323 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Ventricular septal defect, Microcephaly, Sparse eyebrow, Mitral valve pro... |
ORPHA:444072 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, Conjugated hype... |
OMIM:617156 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Short palm, Larg... |
ORPHA:2636 |
Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Hepatomegaly, Arthrogryposis multiplex congenita, Thickened nuchal skin fold |
OMIM:620076 |
Central Core Disease |
|
Mitral valve prolapse |
ORPHA:597 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Cholangitis |
OMIM:614204 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Death in infancy, Double aortic arch, Splenomegaly, Anemia, Failure to thrive, Thro... |
OMIM:230900 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Increased nuchal translucency, Patent ductus arteriosus, Proximal muscle weakness in lower limbs,... |
ORPHA:280633 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Short stature, Hyperglycerolemia, ... |
OMIM:307030 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Microcephaly, Abnormal heart morphology, Coarctation of aort... |
ORPHA:42775 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypertriglyceridemia, Abnormal heart ... |
ORPHA:77293 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Telecanthus, Bicuspid aortic valve, Small for gestational age, Valvular pulmonary stenosis, Atria... |
OMIM:300707 |
Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Elevated hepatic transaminase, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leuk... |
ORPHA:340 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Tapered finger, Short femur, Short humerus, Microcephaly |
OMIM:618367 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventricular septal defect, Microcephaly, Overweight, Obesity, Secondary microcephaly, Decreased b... |
OMIM:619229 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Pili torti, Trichorrh... |
OMIM:261990 |
Lathosterolosis |
|
Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Long clavicles, Pectus excavatum, Clubbing, Osteolytic defects of the phalanges of the hand, Palm... |
OMIM:259100 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Small for gestational age, Microcytic anemia, Microcephaly, Leukocyto... |
ORPHA:99843 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Camurati-Engelmann Disease, Type 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:606631 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Ventricular septal defect, Abnormal nasolacrimal system ... |
ORPHA:141099 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... |
OMIM:263200 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Marfan Syndrome |
|
Pes planus, Mitral valve calcification, Skeletal muscle atrophy, Arachnodactyly, Protrusio acetab... |
ORPHA:558 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hepatoce... |
OMIM:232240 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial sep... |
ORPHA:567 |
Codas Syndrome |
|
Ventricular septal defect, Broad skull, Atrial septal defect, Atrioventricular canal defect, Ptosis |
OMIM:600373 |
Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Peripheral pulmonary artery stenosis, Posterolateral diaphragmatic hernia, Morg... |
OMIM:613177 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Fasciitis, Myositis, Elevated circulating C-reactive protein concentration, Splenom... |
ORPHA:32960 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ... |
OMIM:123700 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Protruding ear, Deeply set eye, Uterine rupture, Internal hemorrhage,... |
ORPHA:286 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Dry hair, Mild postnatal gr... |
ORPHA:90324 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Edema of the ... |
OMIM:274000 |
Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Premature birth, Edema, Polyhydramnios, Muscular ventricular septa... |
ORPHA:79324 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
Witteveen-Kolk Syndrome |
|
Glue ear, Uplifted earlobe, Proximal placement of thumb, Congenital diaphragmatic hernia, Protrud... |
OMIM:613406 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Broad skull, Patent ductus arteriosus, Pulmonic stenosis, Shallow orbi... |
OMIM:277600 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the thumb, Posteriorly rotated ears, Anteverted nares, Depre... |
ORPHA:96176 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased respons... |
OMIM:176270 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Ambiguous genitalia, Abnormal pinna morphology, Anteverted nares, Congenital diaphragmatic hernia... |
OMIM:617641 |
Cohen-Gibson Syndrome |
|
Depressed nasal bridge, Long foot, Coxa valga, Hypertelorism, Long fingers, Cryptorchidism, Flexi... |
OMIM:617561 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Polyhydramnios, Hepatitis, Congenital pulmonary airway malformation, A... |
ORPHA:436252 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... |
OMIM:301074 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Pectus excavatum, Abnormal metaphysis morphology, Long fibula, Biparietal narrowing |
ORPHA:935 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... |
ORPHA:2092 |
Dental Anomalies And Short Stature |
|
Mitral valve prolapse |
OMIM:601216 |
Distal 22Q11.2 Microduplication Syndrome |
|
Epicanthus, Ventricular septal defect, Camptodactyly of finger, Palpebral edema, Microcephaly, Pa... |
ORPHA:261337 |
Meningococcal Meningitis |
|
Shock, Elevated circulating C-reactive protein concentration, Hypotension |
ORPHA:33475 |
Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe... |
ORPHA:2912 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe... |
OMIM:236680 |
Pmm2-Cdg |
|
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Intr... |
ORPHA:79318 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, High... |
OMIM:301044 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Microcephaly, Reduced alpha/beta synthesis ratio, Hypochromic microcyt... |
OMIM:301040 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Mitral regurgitation, Patent foramen ovale |
OMIM:225250 |
Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Disproportionate short stature, Meningocele |
ORPHA:2879 |
Zttk Syndrome |
|
Relative macrocephaly, Epicanthus, Ventricular septal defect, Sparse eyebrow, Patent ductus arter... |
OMIM:617140 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Limb joint cont... |
OMIM:275210 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Skeletal muscle atrophy, Hypolysinemia, Short stature, Splenomegaly, Increased circ... |
OMIM:222700 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh... |
ORPHA:397715 |
Restrictive Dermopathy |
|
Decreased fetal movement, Multiple joint contractures, Premature birth, Dextrocardia, Polyhydramn... |
ORPHA:1662 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Breech presentation, Pa... |
OMIM:214100 |
Doors Syndrome |
|
Thrombocytosis, Double outlet right ventricle, Wide nasal bridge, Microcephaly |
ORPHA:79500 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Posteriorly rotated ears, Tapered finger, Broad nasal tip, Hypertelorism, Cupped ear... |
OMIM:619480 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating... |
OMIM:607364 |
Serotonin Syndrome |
|
Tachycardia, Rhabdomyolysis, Hypertension, Hypotension, Hepatic failure |
ORPHA:43116 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Neonatal death, Sm... |
OMIM:256520 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Epicanthus, Highly arched eyebrow, Microcephaly, Arteria lusoria, Obesity, Narrow palpebral fissu... |
OMIM:618653 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Pectus excav... |
ORPHA:3042 |
Brittle Cornea Syndrome 1 |
|
Macrocephaly, Mitral valve prolapse |
OMIM:229200 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Flexion contracture, Camptodactyly |
OMIM:207410 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Mitral valve prolapse |
ORPHA:98 |
Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosi... |
ORPHA:2712 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Tachycardia, Hypotension |
ORPHA:79155 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Mitral valve prolapse... |
OMIM:617402 |
Hyper-Igd Syndrome |
|
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Sotos Syndrome |
|
Flexion contracture, Pedal edema, Increased head circumference, Conductive hearing impairment, At... |
ORPHA:821 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Congestive heart failure, Hepatitis, Renovascular hyperte... |
ORPHA:391487 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... |
ORPHA:786 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Dahlberg-Borer-Newcomer Syndrome |
|
Wide nasal bridge, Mitral valve prolapse |
ORPHA:1563 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Decreased circulating renin level, Hyponatremia, Hypertelor... |
OMIM:201750 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect, Pancreatitis, Elevated hepatic transaminase |
OMIM:619471 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Ascites, Mitral regurgitation, Mitral valve prolapse |
ORPHA:2848 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Relative macrocephaly, Ventricular septal defect, Microcephaly, Dacryocystitis, Macrocephaly, Dow... |
ORPHA:251028 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Gastrointestinal angiodysplasia, A... |
OMIM:193400 |
Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:2671 |
Cardiospondylocarpofacial Syndrome |
|
Mitral regurgitation, Mitral valve prolapse |
ORPHA:3238 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P... |
OMIM:192350 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Microcephaly, Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Almond-shaped palpebral fissure, Flexion contracture, Increased body weight, Abdominal obesity, A... |
ORPHA:398069 |
Chime Syndrome |
|
Epicanthus, Ventricular septal defect, Tetralogy of Fallot, Acute leukemia, Upslanted palpebral f... |
ORPHA:3474 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Epicanthus, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Upslanted palpebra... |
OMIM:616975 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypokalemia, Hypotension |
ORPHA:330021 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Mitral valve prolapse, Hypertension, A... |
ORPHA:730 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse |
OMIM:225310 |
Degcags Syndrome |
|
Synophrys, Leukopenia, Iron deficiency anemia, Atrial septal defect, Diaphragmatic eventration, P... |
OMIM:619488 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ptosis, Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Type 1 muscle fiber atrop... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ptosis, Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Type 1 muscle fiber atrop... |
ORPHA:352665 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Microcephaly, Pers... |
OMIM:619268 |
Distal Deletion 19P |
|
Thick eyebrow, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Pneumocystosis |
|
Weight loss, Abnormal neutrophil count |
ORPHA:723 |
Congenital Contractural Arachnodactyly |
|
Aortic aneurysm, Slender build, Mitral valve prolapse |
ORPHA:115 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash... |
ORPHA:2526 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Ventricular septal defect, Microcephaly, Synophrys, Ventricular septal hypertrophy, ... |
OMIM:608670 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, Rhabdomyolysis, Retina... |
ORPHA:509 |
Infant Botulism |
|
Hyponatremia, Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Fibromuscular Dysplasia, Multifocal |
|
Pes planus, Micrognathia, Pectus excavatum, Deeply set eye, Narrow nose |
OMIM:619329 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Flexion contracture, Low... |
OMIM:263650 |
Ellis-Van Creveld Syndrome |
|
Atrial septal defect, Common atrium |
OMIM:225500 |
Spondyloocular Syndrome |
|
Atrial septal defect, Lymphedema, Mitral valve prolapse, Dysplastic aortic valve |
OMIM:605822 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Distal Deletion 6P |
|
Atrial septal defect, Epicanthus, Downslanted palpebral fissures |
ORPHA:96125 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Epicanthus, Progressive flexion contractures, Abnormal location of the eyebrow, Almond-shaped pal... |
ORPHA:522077 |
Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepat... |
OMIM:188400 |
Microphthalmia, Syndromic 1 |
|
Prominent fingertip pads, Syndactyly, Abnormal pinna morphology, Bicuspid aortic valve, Down-slop... |
OMIM:309800 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cardiomyopathy, Mitral regurgitation, Mitral valve prolapse |
OMIM:258450 |
Ctcf-Related Neurodevelopmental Disorder |
|
Epicanthus, Small for gestational age, Highly arched eyebrow, Microcephaly, Patent ductus arterio... |
ORPHA:363611 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
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Pectus excavatum |
OMIM:251750 |
Weill-Marchesani Syndrome 2 |
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Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... |
OMIM:608328 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Micrognathia, Pectus excavatum, Conductive hearing impairment, Pulmonary arterial h... |
ORPHA:2785 |
Oculodentodigital Dysplasia |
|
Epicanthus, Microcephaly, Blepharophimosis, Joint contracture of the 5th finger, Atrial septal de... |
OMIM:164200 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Ventricular septal defect, Highly arched eyebrow, Autoimmune thrombocytopenia, ... |
OMIM:147920 |
Leigh Syndrome |
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Failure to thrive, Ventricular septal defect, Congestive heart failure, Neutropenia, Hypertrophic... |
ORPHA:506 |
Multiple Endocrine Neoplasia, Type Iib |
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Pectus excavatum, Myopathy, Pes cavus, Proximal femoral epiphysiolysis |
OMIM:162300 |
Clapo Syndrome |
|
Pectus excavatum, Hemihypertrophy of lower limb, Narrow chest, Macrodactyly |
ORPHA:168984 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Ventricular septal defect, Highly arched eyebrow, Microcephaly, Patent ductus arteriosus, Synophr... |
ORPHA:444077 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular aorta aneury... |
OMIM:614816 |
Hepatoerythropoietic Porphyria |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:95159 |
Hajdu-Cheney Syndrome |
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Epicanthus, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Synophrys, Long eye... |
OMIM:102500 |
African Trypanosomiasis |
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Abnormal EKG, Pericarditis, Hepatomegaly, Alopecia, Abnormality of the endocrine system, Myocardi... |
ORPHA:3385 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Trichothiodystrophy |
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Epicanthus, Multiple joint contractures, Ventricular septal defect, Microcephaly, Increased mean ... |
ORPHA:33364 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Edema of the dorsum of feet, Small scrotum, Congenital diaphragmatic ... |
OMIM:601803 |
Cerebrocostomandibular Syndrome |
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Epicanthus, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Elbow flexion cont... |
OMIM:117650 |
Microgastria-Limb Reduction Defect Syndrome |
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Congenital muscular torticollis, Hepatomegaly, Abnormality of the spleen, Atrial septal defect, T... |
ORPHA:2538 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abno... |
ORPHA:536471 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Breech presentation, ... |
OMIM:618846 |
Osteopetrosis, Autosomal Recessive 7 |
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Hepatomegaly, Death in infancy, Splenomegaly, Increased head circumference, Death in childhood, A... |
OMIM:612301 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Pancreatitis, Premature co... |
OMIM:615947 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Ventricular septal defect, Overweight, Macrocephaly, Failure to thrive, Peripheral pulmonary arte... |
OMIM:619575 |
Hellp Syndrome |
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Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... |
ORPHA:3138 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Raynaud phenomenon, Spl... |
OMIM:613471 |
Exercise-Induced Malignant Hyperthermia |
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Prolonged QT interval, Elevated circulating creatine kinase concentration, Hepatic failure, Rhabd... |
ORPHA:466650 |
Hand-Foot-Genital Syndrome |
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Ventricular septal defect |
ORPHA:2438 |
Acrofacial Dysostosis 1, Nager Type |
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Ventricular septal defect, Sparse lower eyelashes, Congenital diaphragmatic hernia, Microcephaly,... |
OMIM:154400 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Trichiasis, Patent ductu... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Trichiasis, Patent ductu... |
ORPHA:353277 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Epicanthus, Ventricular septal defect, Microcephaly, Pulmonary artery stenosis, Dilatation of the... |
ORPHA:459070 |
Prader-Willi Syndrome Due To Translocation |
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Microcephaly, Almond-shaped palpebral fissure, Patent ductus arteriosus, Obesity, Abnormal heart ... |
ORPHA:177907 |
Acute Radiation Syndrome |
|
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Fraser Syndrome |
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Hypoplasia of penis, Cleft ala nasi, Small scrotum, Conductive hearing impairment, Low-set, poste... |
ORPHA:2052 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension, Abnormal sweat gland morphology |
ORPHA:247257 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:79277 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... |
ORPHA:731 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Curly eyelashes, Highly... |
OMIM:122470 |
Renal Tubular Dysgenesis |
|
Hypotension, Microcephaly |
OMIM:267430 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... |
ORPHA:353281 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia,... |
ORPHA:428 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Ankylobleph... |
ORPHA:1071 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins, Mitral valve prolapse |
OMIM:618000 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Hypotension, Limb hypertonia |
OMIM:608643 |
Esophageal Atresia |
|
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Absence of stomach bubble on fet... |
ORPHA:1199 |
Aspartylglucosaminuria |
|
Hepatomegaly, Pes planus, Macroorchidism, Abnormal morphology of ulna, Hypertelorism, Splenomegal... |
ORPHA:93 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Mitral valve prolapse |
OMIM:606408 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Preductal coarctation of the aorta, Neonatal... |
OMIM:146510 |
Aicardi Syndrome |
|
Postnatal growth retardation, Spina bifida |
OMIM:304050 |
Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Telecanthus, Small for gestational age, Facial hypotonia, Lacrimal ... |
ORPHA:506358 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension, Aortic root aneurysm, Mitral valve prolapse |
ORPHA:449291 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... |
OMIM:271640 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Almond-shaped palpebral fissure, Patent ductus ... |
ORPHA:438213 |
Plague |
|
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesen... |
ORPHA:707 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Elevated hepatic transaminase, Ventricular septal defect, Bicuspid aortic v... |
OMIM:619475 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Hypertension, Oligohydramnios |
OMIM:300896 |
Neurooculorenal Syndrome |
|
Dextrocardia, Anhydramnios, Mitral valve prolapse, Tetralogy of Fallot with pulmonary stenosis, P... |
OMIM:620305 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Myositis, Dextrocardia, R... |
ORPHA:3310 |
Legius Syndrome |
|
Acute monocytic leukemia, Paroxysmal atrial tachycardia, Mitral valve prolapse, Pulmonic stenosis... |
ORPHA:137605 |
Oculodentodigital Dysplasia |
|
Arrhythmia, Ventricular septal defect, Camptodactyly of finger |
ORPHA:2710 |
Penile Agenesis |
|
Atrial septal defect, Fetal pyelectasis, Ventricular septal defect, Oligohydramnios |
ORPHA:49 |
Orofaciodigital Syndrome Xiv |
|
Telecanthus, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Upslanted palpebr... |
OMIM:615948 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Obesity, Mitral valve prolapse, Macrocephaly, Failure to thrive |
ORPHA:369950 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Arima Syndrome |
|
Growth delay, Occipital meningocele |
OMIM:243910 |
Holoprosencephaly 1 |
|
Hypoglycemia, Short stature, Adrenal hypoplasia, Microcephaly, Hypotelorism, Cyclopia, Diabetes i... |
OMIM:236100 |
Poland Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Abnormalit... |
ORPHA:2911 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis, Hydrops fetalis |
ORPHA:93271 |
Semilobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:93924 |
Apert Syndrome |
|
Downslanted palpebral fissures, Overriding aorta, Ventricular septal defect, Shallow orbits |
OMIM:101200 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect, Upslante... |
ORPHA:1724 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Relative macrocephaly, Epicanthus, Failure to thrive in infancy, Transient ischemic attack, Spars... |
ORPHA:500150 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hypertension, Hyperuricemia, Hypotension, Anemia |
OMIM:174000 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Microcephaly, Right aortic arch, Lower-limb joint contracture, Failure... |
ORPHA:513456 |
Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Patent ductus arteriosu... |
OMIM:135900 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis, Arrhythmia |
OMIM:250220 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypothyroidism, Hypotension |
ORPHA:93256 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Meester-Loeys Syndrome |
|
Relative macrocephaly, Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the... |
OMIM:300989 |
Chromosome 13Q14 Deletion Syndrome |
|
Epicanthus, Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... |
OMIM:611962 |
Orofaciodigital Syndrome Type 14 |
|
Telecanthus, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Upslanted palpebr... |
ORPHA:434179 |
Townes-Brocks Syndrome |
|
Failure to thrive, Abnormal pulmonary valve morphology, Blepharophimosis, Limbal dermoid, Patent ... |
ORPHA:857 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Epicanthus, Telecanthus, Ventricular septal defect, Microcephaly, Upslanted palpebral fissure, Na... |
OMIM:620330 |
Brittle Cornea Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
1-minute APGAR score of 1, Cyst of the ductus choledochus, Patent ductus arteriosus, 5-minute APG... |
ORPHA:480880 |
Early Infantile Epileptic Encephalopathy |
|
Failure to thrive, Ventricular septal defect, Microcephaly |
ORPHA:1934 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Achalasia, Ineffective esophageal peristalsis, Sinus bradycardia |
OMIM:619482 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Large for gestational age, Patent ductus arteriosus, Coarctation of ao... |
ORPHA:672 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... |
ORPHA:85438 |
Osteogenesis Imperfecta, Type I |
|
Aortic aneurysm, Mitral valve prolapse |
OMIM:166200 |
Diphallia |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:227 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hypertension, Hydromyelia, Neonatal death, Atrial septal defect, Corneal neovascularization, Olig... |
OMIM:308205 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Telecanthus, Multiple joint contractures, Secundum atrial septal defect, Subarterial ventricular ... |
ORPHA:99646 |
Floating-Harbor Syndrome |
|
Small for gestational age, Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesoc... |
ORPHA:2044 |
Townes-Brocks Syndrome 1 |
|
Ventricular septal defect, Small for gestational age, Microcephaly, Atrial septal defect, Tetralo... |
OMIM:107480 |
Floating-Harbor Syndrome |
|
Coarctation of aorta, Long eyelashes, Atrial septal defect, Mesocardia, Persistent left superior ... |
OMIM:136140 |
Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Mitral valve prolapse |
OMIM:259600 |
Stickler Syndrome |
|
Cachexia, Mitral valve prolapse, Arrhythmia, Short nose, Slender build |
ORPHA:828 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Microcephaly |
OMIM:259770 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Mitral regurgitation, Aortic ro... |
ORPHA:287 |
Ulnar-Mammary Syndrome |
|
Elbow flexion contracture, Arrhythmia, Ventricular septal defect |
OMIM:181450 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Hypoplasia of facial musculature, Blepharophimosis, Patent ductus arte... |
OMIM:164210 |
Metachondromatosis |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology |
ORPHA:2499 |
Metachondromatosis |
|
Bowing of the long bones |
OMIM:156250 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |