| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly, Obesity, Congenital hypothyroidism, Hypoalbuminemia |
ORPHA:88643 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... |
OMIM:620135 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Hepatomegaly, Osteopenia, Hypocholesterolemia |
OMIM:610539 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Hypospadias, Failure to thrive in infancy, Increased circulating farnesol ... |
OMIM:618156 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre... |
OMIM:235200 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
| Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hydrocele testis, Hypertrophic cardiomyopathy, Hypocholesterolemia, Micropenis |
OMIM:618810 |
| Potocki-Lupski Syndrome |
|
Small for gestational age, Hypothyroidism, Hypocholesterolemia, Atrial septal defect, Failure to ... |
OMIM:610883 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Failur... |
OMIM:266510 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
| Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure |
OMIM:143500 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterole... |
OMIM:607765 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... |
OMIM:612526 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic sy... |
OMIM:269920 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogo... |
OMIM:212065 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, B-cell lymphoma, Myelodysplasia, Hematolog... |
ORPHA:158057 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly |
OMIM:614096 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619064 |
| Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Hypothyroidism, Spl... |
ORPHA:465508 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
| Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Muscular... |
ORPHA:79324 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, H... |
OMIM:614702 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Car... |
OMIM:256550 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:212140 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Decreased skull ossification, Testicular atrophy, Congenital diaphragmatic hernia |
OMIM:601163 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:42 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Enamel hypoplasia, Thi... |
OMIM:253250 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:618838 |
| Abetalipoproteinemia |
|
Osteopenia, Hepatomegaly, Decreased HDL cholesterol concentration, Failure to thrive, Cardiomegal... |
ORPHA:14 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Ventricular septal defect, Hypospadias, Small for gestational age, Cardiomegaly, Flex... |
OMIM:616897 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Large for gestational age, Osteoporosi... |
OMIM:239850 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension |
OMIM:617068 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Portal fibrosis, Hepa... |
OMIM:616278 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Cardiomyopathy, Hypothyro... |
OMIM:222300 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Dec... |
ORPHA:96180 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... |
ORPHA:3427 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... |
OMIM:619484 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
| Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card... |
OMIM:266500 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Hypocalcemia, Tetralogy of Fallot, Paten... |
OMIM:601005 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:235555 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... |
OMIM:602347 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal def... |
OMIM:270400 |
| Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Cardiomegaly, Mucopolysacchariduria, Failure to thrive, Hypothyroidism |
ORPHA:349 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:201475 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
| Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Hypoplastic labia majora, Hypocholesterolemia, Atrial septal defect, F... |
OMIM:244450 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, N... |
OMIM:617713 |
| Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Elevated hepatic transaminase, Portal hypertension |
OMIM:615506 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hypocholesterolemia, Left ventricular hypertrophy, Coro... |
ORPHA:31150 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase con... |
OMIM:608836 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Flexion contracture of finger, Hypergonadotropic hypogonadism... |
OMIM:602782 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomeg... |
OMIM:130650 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:363705 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Failure to thrive |
ORPHA:99931 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Hyperammonemia... |
ORPHA:391428 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... |
ORPHA:57777 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Small for gestational age, Cardiomegaly |
OMIM:613320 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Aarskog-Scott Syndrome |
|
Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto... |
OMIM:305400 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Eunuchoid habitus, Cardiomegaly, Abnormal thymus morphology, Loss of truncal subcutan... |
ORPHA:2463 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
| Dubowitz Syndrome |
|
Cryptorchidism, Inguinal hernia, Hypospadias, Hypocholesterolemia |
OMIM:223370 |
| Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly... |
ORPHA:79330 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating copper concentration, Glandular hypospadias, Abnormal circulating ceruloplas... |
OMIM:620306 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Cholelithiasis, Priapism |
OMIM:603903 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Constrictive... |
ORPHA:90363 |
| Sandhoff Disease |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Impotence |
OMIM:268800 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... |
ORPHA:308552 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Osteoporosis, Umbilical hernia, Hypertrophic cardi... |
ORPHA:1517 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Umbilic... |
OMIM:618143 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated c... |
OMIM:614921 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly... |
OMIM:245600 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Jaundice, ... |
ORPHA:567983 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus |
OMIM:617022 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V... |
ORPHA:116 |
| Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicular atrophy |
OMIM:300322 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Lipodystrophy, Campt... |
OMIM:256040 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, ... |
ORPHA:268 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Glycopeptiduria, Oligosacchariduri... |
OMIM:230000 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly |
OMIM:619259 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Decreased body weight, Arthrogrypos... |
OMIM:608013 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Craniosynostosis,... |
OMIM:252500 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... |
OMIM:300967 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Inguinal hernia, Craniofacial hyperostosis, Cardiomegaly, Heparan sulfate excretion... |
ORPHA:581 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentrati... |
OMIM:619991 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Inguinal hernia, Bicuspid aortic valve, Left atrial enlargement, Mater... |
OMIM:300855 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion contractu... |
ORPHA:365 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc... |
ORPHA:904 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Failure to... |
ORPHA:137675 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abnormal cardiac septu... |
ORPHA:97297 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Osteoporosis, Abnormality of the Leydig cells, Campt... |
ORPHA:3063 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... |
ORPHA:3384 |
| Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Multiple joint contractures, Lipoatrophy, Cardiomegaly, Hepatosplenomegaly, Hy... |
ORPHA:51 |
| Yunis-Varon Syndrome |
|
Absent sternal ossification, Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism... |
ORPHA:3472 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality of connective tissue, Inguinal hernia, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Failure to thrive in infancy, Adrenal calcification, ... |
ORPHA:51608 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ... |
ORPHA:75565 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O... |
OMIM:182250 |
