| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Megalencephaly |
|
Atrial septal defect, Macroorchidism, Long penis |
ORPHA:2477 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Oligozoospermia, Macroorchidism, Long penis |
ORPHA:3000 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Mitral valve prolapse, Congenital macroorchidism |
OMIM:300624 |
| Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Macroorchidism |
OMIM:300238 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... |
ORPHA:324410 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... |
OMIM:620135 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Female external genitalia in individual with 46,XY karyotype, Abnormal female exter... |
ORPHA:90790 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Lujan-Fryns Syndrome |
|
Atrial septal defect, Macroorchidism |
ORPHA:776 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| Fragile X Syndrome |
|
Macroorchidism, Mitral valve prolapse |
ORPHA:908 |
| Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism, Recurrent upper respiratory tract infections |
ORPHA:284180 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections, Hyperalan... |
OMIM:619170 |
| Polyembryoma |
|
Isosexual precocious puberty, Macroorchidism, Elevated circulating alpha-fetoprotein concentration |
ORPHA:180229 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Azoospermia, Pleural effusion, Cardiomyopathy, Increased circulating iron concentra... |
OMIM:235200 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
| 47,Xyy Syndrome |
|
Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating gonadotropin level, ... |
ORPHA:8 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Pulmonary hypoplasia, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... |
OMIM:600649 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... |
ORPHA:91348 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... |
ORPHA:52901 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, N... |
ORPHA:90674 |
| Mccune-Albright Syndrome |
|
Abnormal testis morphology, Precocious puberty, Ovarian cyst, Hypophosphatemia, Elevated circulat... |
ORPHA:562 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... |
ORPHA:91349 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo... |
ORPHA:91 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pleural effusion, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial effus... |
OMIM:614702 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Mitral valve prolapse, Macroorchidism |
OMIM:618874 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ventricular septal defect, Macroorchidism |
OMIM:309520 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine k... |
OMIM:300280 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... |
OMIM:618652 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Decreased circulating carnitine concentration, Cardiomyopathy, Elevated circulating... |
OMIM:212140 |
| Timothy Syndrome |
|
Cardiomegaly, Hypocalcemia, Bronchitis, Patent foramen ovale, Tetralogy of Fallot, Pneumonia, Ven... |
OMIM:601005 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Pulmonary edema, Left atrial enlar... |
ORPHA:57777 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c... |
OMIM:620306 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Hepatomegaly |
OMIM:619064 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
| Trisomy 20P |
|
Cryptorchidism, Hypospadias, Macroorchidism |
ORPHA:261318 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
OMIM:619051 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyopathy, H... |
ORPHA:85451 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Reticular pattern on pulmonary HRCT, Cardiomegaly, Hepatosplenomegaly, Pulmonary fi... |
ORPHA:99931 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular sept... |
ORPHA:860 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyper... |
OMIM:255120 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| 49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Recurrent... |
ORPHA:261534 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... |
ORPHA:42 |
| Mulibrey Nanism |
|
Hepatomegaly, Recurrent lower respiratory tract infections, Pericardial constriction, Myocardial ... |
OMIM:253250 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Decreased circulating carnitine concentration, Elevated circulating creatine kinase... |
OMIM:201475 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Pulmonary edema, Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly... |
OMIM:115197 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... |
ORPHA:3427 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly, V... |
OMIM:616897 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma |
ORPHA:615 |
| Carney Complex |
|
Ductal carcinoma in situ, Neoplasm of the pancreas, Increased circulating cortisol level, Testicu... |
ORPHA:1359 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Testicular atrophy, ... |
ORPHA:465508 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Recurrent upper respiratory tract infe... |
OMIM:252920 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Recurrent respiratory infections, Pl... |
OMIM:232300 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Left ventricula... |
OMIM:617713 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Recurrent pneumonia |
ORPHA:3137 |
| Long-Olsen-Distelmaier Syndrome |
|
Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricular ... |
OMIM:620609 |
| Cystic Echinococcosis |
|
Hepatomegaly, Hyperbilirubinemia, Abnormal subpleural morphology, Abnormality of the testis size,... |
ORPHA:400 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Re... |
ORPHA:308552 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... |
ORPHA:3092 |
| Truncus Arteriosus |
|
Abnormal lung lobation, Pulmonary edema, Transposition of the great arteries, Abnormal heart valv... |
ORPHA:3384 |
| Refsum Disease, Classic |
|
Elevated circulating phytanic acid concentration, Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Recurrent respiratory infections, Macroorchidism |
OMIM:619950 |
| Mogs-Cdg |
|
Pulmonary edema, External genital hypoplasia, Hepatomegaly, Hepatosplenomegaly, Left ventricular ... |
ORPHA:79330 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... |
OMIM:300257 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Cardiomyopathy,... |
ORPHA:228308 |
| Neuraminidase Deficiency |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly |
OMIM:256550 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration |
OMIM:618886 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... |
OMIM:620642 |
| Congenital Tracheomalacia |
|
Pneumothorax, Emphysema, Cardiomegaly, Single ventricle, Ventricular septal defect, Bronchiectasi... |
ORPHA:95430 |
| Proteus Syndrome |
|
Abnormal lung lobation, Bronchogenic cyst, Enlarged kidney, Ovarian neoplasm, Pulmonary bulla, Lo... |
ORPHA:744 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy |
ORPHA:391428 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... |
ORPHA:2041 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement |
OMIM:614473 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiomegaly, Overriding aorta, Ventricular septa... |
OMIM:617022 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... |
OMIM:306955 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Hepatomegaly, Elevated circulating long chain fatty acid concentration, Elevated... |
OMIM:608836 |
| Absence Of The Pulmonary Artery |
|
Pulmonary edema, Atrial septal defect, Cardiomegaly, Patent foramen ovale, Truncus arteriosus, Re... |
ORPHA:980 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
| Aspartylglucosaminuria |
|
Splenomegaly, Recurrent respiratory infections, Hepatomegaly, Macroorchidism |
ORPHA:93 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy |
ORPHA:268 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... |
ORPHA:325124 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Recurrent pneum... |
ORPHA:1329 |
| Aspartylglucosaminuria |
|
Recurrent respiratory infections, Hepatomegaly, Macroorchidism |
OMIM:208400 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:614921 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Enlarged kidney, Cardiomyopathy, Pleural effusion, Hypertrophic cardiomyopathy, ... |
OMIM:261740 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Pulmonary edema, Cardiomyopathy |
OMIM:105210 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... |
OMIM:231005 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Hepatomegaly, Azoospermia, Pancreatic hypo... |
OMIM:602782 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Atelectasis, Ventricular hypertrophy, Unconjugated hyperbilirubinemia, Hepatospleno... |
OMIM:618278 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... |
ORPHA:363705 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Steatorrhea, Hypotriglyceridemia, Hyperbil... |
ORPHA:14 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Pulmonary hypoplasia, Splenomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:608013 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial... |
ORPHA:96191 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Cryptorchidism, Hepatomegaly |
OMIM:618143 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets |
OMIM:208000 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Cholelithiasis |
OMIM:603903 |
| Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Right vent... |
ORPHA:1478 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Splenomegaly, Card... |
OMIM:619991 |
| Ogden Syndrome |
|
Left atrial enlargement, Pulmonary edema, Perimembranous ventricular septal defect, Enlarged kidn... |
OMIM:300855 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly, Overgrowth o... |
OMIM:130650 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... |
OMIM:601214 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Atelectasis, Elevated circulating creatine kinase concentration, Hypertrophic cardi... |
ORPHA:365 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Congenital hydrocele, Paroti... |
OMIM:620376 |
| Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Recurrent bronchitis, Increased serum beta-hexosaminidase, Hypertr... |
OMIM:252500 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Atelectasis, Patent foramen ovale, Pulmonary artery atresia, Pulmonary hypoplasia, Cardiomegaly, ... |
OMIM:620371 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial septal defect, Transposition of ... |
ORPHA:99125 |
| Cantú Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy |
ORPHA:1517 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal aortic valve morphology, Hepatomegaly, Aspiration pneumonia, Abnormal mitral valve morph... |
ORPHA:581 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... |
OMIM:620066 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c... |
OMIM:300967 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Pleural effusion, Atrial septal dilatation, Right atrial enlargement, Right ventric... |
ORPHA:1677 |
| Histiocytoid Cardiomyopathy |
|
Pulmonary edema, Hepatomegaly, Cardiomegaly, Polycystic ovaries, Ventricular septal defect |
ORPHA:137675 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... |
OMIM:256040 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Fucosidosis |
|
Cardiomegaly, Recurrent respiratory infections, Hepatomegaly, Splenomegaly |
OMIM:230000 |
| Bohring-Opitz Syndrome |
|
Annular pancreas, Cholelithiasis, Cardiomegaly, Recurrent respiratory infections, Abnormal cardia... |
ORPHA:97297 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Pneumothorax, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Visceromegaly, Hypertrophic cardiomy... |
ORPHA:116 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypoplasia of penis, Pulmonic stenosis, Mitral valve pr... |
ORPHA:904 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... |
ORPHA:75565 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Hypospadias, Ventricular septal defect, Cardiomyopathy, Tetralogy of Fallot... |
ORPHA:3472 |
| Aicardi-Goutières Syndrome |
|
Cardiomegaly, Hepatosplenomegaly, Micropenis, Hypertrophic cardiomyopathy |
ORPHA:51 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Singleton-Merten Syndrome 1 |
|
Pleural effusion, Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, ... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Ventricular hypertrophy, Pericardial effusion, Pancreatic calcification... |
ORPHA:51608 |
