| 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 |
|
Macroorchidism, Long penis, Atrial septal defect |
ORPHA:2477 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Macroorchidism, Long penis, Oligozoospermia |
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, Congenital macroorchidism, Mitral valve prolapse |
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 |
|
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia, Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperpla... |
ORPHA:90790 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Lujan-Fryns Syndrome |
|
Macroorchidism, Atrial septal defect |
ORPHA:776 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| Fragile X Syndrome |
|
Macroorchidism, Mitral valve prolapse |
ORPHA:908 |
| Xp22.13P22.2 Duplication Syndrome |
|
Recurrent upper respiratory tract infections, Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Recurre... |
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 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... |
ORPHA:983 |
| 47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Oligozoospermia, Increased circulating gonad... |
ORPHA:8 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonary hypoplasia |
OMIM:614096 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
| Functioning Gonadotropic Adenoma |
|
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... |
ORPHA:91348 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... |
ORPHA:52901 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... |
ORPHA:562 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Increased circulating prolactin concentration, Goiter, Abnormal circ... |
ORPHA:90674 |
| Non-Functioning Pituitary Adenoma |
|
Secondary growth hormone deficiency, Male hypogonadism, Hypopituitarism, Decreased response to gr... |
ORPHA:91349 |
| Aromatase Deficiency |
|
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Hyperlipidemia, Enlarg... |
ORPHA:91 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias, Mitral valve prolapse |
OMIM:618874 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Per... |
OMIM:614702 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, Atrial septal defect, Ventricular septal defect |
OMIM:309520 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... |
OMIM:618652 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creati... |
OMIM:300280 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Cardiomyopathy, Hypertrophic cardiomyopathy, Endoc... |
OMIM:212140 |
| Timothy Syndrome |
|
Pneumonia, Bronchitis, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septa... |
OMIM:601005 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Pulmonary edema, Cardiomegaly, Lef... |
ORPHA:57777 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, E... |
OMIM:618052 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Hyperalaninemia, Hyperprolinemia |
OMIM:619064 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Glan... |
OMIM:620306 |
| Trisomy 20P |
|
Macroorchidism, Hypospadias, Cryptorchidism |
ORPHA:261318 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:269920 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia |
OMIM:619051 |
| Idiopathic Pulmonary Hemosiderosis |
|
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat... |
ORPHA:99931 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| 49,Xxxyy Syndrome |
|
Recurrent upper respiratory tract infections, Abnormality of the testis size, Male hypogonadism, ... |
ORPHA:261534 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Transient hyper... |
OMIM:255120 |
| Mulibrey Nanism |
|
Cardiomegaly, Pericardial constriction, Hepatomegaly, Recurrent lower respiratory tract infection... |
OMIM:253250 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, D... |
ORPHA:42 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Hyperammonemia, Eleva... |
OMIM:201475 |
| Double Outlet Left Ventricle |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulm... |
ORPHA:3427 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis |
ORPHA:615 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, Micropeni... |
OMIM:616897 |
| Carney Complex |
|
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... |
ORPHA:1359 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Mucopolysaccharidosis, Type Iiib |
|
Recurrent upper respiratory tract infections, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetri... |
OMIM:252920 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Increased circulating ferritin concentration, Splenomegaly, Cardiomegaly, Hypogon... |
ORPHA:465508 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Recurrent pneumonia |
ORPHA:3137 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Hyperammonemia, Ventricular septal defect,... |
OMIM:620609 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula... |
OMIM:617713 |
| Glycogen Storage Disease Ii |
|
Pleural effusion, Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
OMIM:232300 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Clitoral hypertrophy, Abnormal labia majora morphology, Congenital adrenal hyperplasia, Decreased... |
ORPHA:90791 |
| Cystic Echinococcosis |
|
Pulmonary cyst, Abnormality of the testis size, Abnormal heart morphology, Hyperbilirubinemia, Ov... |
ORPHA:400 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Respiratory tract infection, Elevated circulating creatine kinase co... |
ORPHA:308552 |
| Truncus Arteriosus |
|
Pulmonary artery hypoplasia, Abnormal lung lobation, Abnormal heart morphology, Tetralogy of Fall... |
ORPHA:3384 |
| Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy |
OMIM:266500 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Recurrent respiratory infections, Macroorchidism |
OMIM:619950 |
| Mogs-Cdg |
|
Hepatosplenomegaly, External genital hypoplasia, Pulmonary edema, Cardiomegaly, Left ventricular ... |
ORPHA:79330 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... |
OMIM:300257 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Ciliary Dyskinesia, Primary, 53 |
|
Recurrent pneumonia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous v... |
OMIM:620642 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... |
ORPHA:95430 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine... |
ORPHA:228308 |
| Proteus Syndrome |
|
Pulmonary cyst, Long penis, Bronchogenic cyst, Thymus hyperplasia, Abnormal lung lobation, Spleno... |
ORPHA:744 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration |
OMIM:618886 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy |
ORPHA:391428 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Hypophosphatemic rickets |
OMIM:614473 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Pulmonary hy... |
OMIM:617022 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
| Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncu... |
ORPHA:980 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Increased total bilirubin, Elevated circulating creatinine concentration,... |
OMIM:608836 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Macroorchidism, Splenomegaly |
ORPHA:93 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration |
ORPHA:268 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Micro... |
ORPHA:325124 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Recurrent pneumonia, Displacement of the papillary muscles, Abnormal... |
ORPHA:1329 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Macroorchidism |
OMIM:208400 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Pleural effusion, Pulmona... |
OMIM:261740 |
| Amyloidosis, Hereditary Systemic 1 |
|
Pulmonary edema, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Ventric... |
OMIM:614921 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Hepatosplenomegaly,... |
OMIM:602782 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Atelectasis, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Unconjugate... |
OMIM:618278 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Pulmonary hypoplasia |
OMIM:608013 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... |
ORPHA:14 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:96191 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism |
OMIM:618143 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets |
OMIM:208000 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Cholelithiasis, Splenomegaly |
OMIM:603903 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Ogden Syndrome |
|
Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Decreased testicular size, H... |
OMIM:300855 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorchidism, Cardiom... |
OMIM:130650 |
| Liver Disease, Severe Congenital |
|
Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Pulmonary ed... |
OMIM:619991 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Atelectasis, Hypertrophic cardiomyopathy, Respiratory tract infection, Elevated circulating creat... |
ORPHA:365 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Parotitis, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Elevated circulating C-reactive protei... |
OMIM:620376 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Recurrent pneumonia, Hypertrophic cardiomyopathy, Recurrent ... |
OMIM:252500 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Atelectasis, Cryptorchidism, Patent foramen ovale, Cardiomegaly, Pulmonary artery atresia, Pulmon... |
OMIM:620371 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
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 |
|
Aspiration pneumonia, Respiratory tract infection, Splenomegaly, Abnormal mitral valve morphology... |
ORPHA:581 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... |
OMIM:300967 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Pleural effusion, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation,... |
ORPHA:1677 |
| Histiocytoid Cardiomyopathy |
|
Polycystic ovaries, Pulmonary edema, Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:137675 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Fucosidosis |
|
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Recurrent upper respiratory tract infections, Parotitis, Decreased HDL cholesterol concentration,... |
OMIM:256040 |
| Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Cardiomegaly, Abnormal cardiac septum morphology, Recurrent res... |
ORPHA:97297 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve, Pneumothorax |
ORPHA:91387 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Splenomegaly, Cryptorch... |
ORPHA:116 |
| Williams Syndrome |
|
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid ao... |
ORPHA:904 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... |
ORPHA:75565 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal def... |
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 |
|
Aortic valve stenosis, Aortic valve calcification, Pleural effusion, Cardiomegaly, Mitral valve c... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hypophosphatemic rickets, Cardiomegaly, Pancreatic calcification, Perica... |
ORPHA:51608 |
