Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... |
ORPHA:79506 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... |
OMIM:144250 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
OMIM:620058 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... |
OMIM:605670 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Birdshot Chorioretinopathy |
|
Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal detachment,... |
ORPHA:179 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level |
OMIM:620211 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:615922 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lactescent serum, Hypercholesterolemia, Increased circulating chylomicron concent... |
OMIM:238600 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Retinal degeneration, Hypertriglyceridemia,... |
OMIM:615558 |
Congenital Myopathy 8 |
|
Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrophy, Internall... |
OMIM:618654 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia |
OMIM:616267 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Exudative Vitreoretinopathy 1 |
|
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... |
OMIM:133780 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Cardiomegaly, Increased variability in muscle fiber diameter, Hypertrophic cardio... |
OMIM:614096 |
Vitreoretinal Degeneration, Snowflake Type |
|
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Retinal detachment, Hypercholesterolemia |
OMIM:182290 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:208920 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Intrauterine growth retardation, Hepatomegaly, Hydrocephalus |
ORPHA:858 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... |
ORPHA:567548 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... |
ORPHA:64753 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus |
OMIM:300886 |
Cantu Syndrome |
|
Umbilical hernia, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial ef... |
OMIM:239850 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia |
ORPHA:79237 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Coloboma Of Optic Nerve |
|
Optic disc coloboma, Retinal detachment |
OMIM:120430 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... |
ORPHA:247598 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Hydrocephalus |
OMIM:269920 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... |
ORPHA:247585 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Intrauterine growth retardation, Perimembranous ventricular septal defect, ... |
OMIM:620135 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... |
OMIM:619662 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Camptodactyly of toe, Camptodactyly, Left atrial enlargement, Left ventricular hypertrophy, Cardi... |
OMIM:300280 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Atrial septal defect... |
ORPHA:860 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Retinal detachment, Hypercholesterolemia |
ORPHA:819 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... |
OMIM:278000 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... |
OMIM:618052 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Papilledema, Retinal vascular tortuosity, Rod-cone dystrophy |
OMIM:619471 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia |
OMIM:619170 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, ... |
OMIM:618652 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Fixed Subaortic Stenosis |
|
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... |
ORPHA:3092 |
Carnitine Deficiency, Systemic Primary |
|
Myopathy, Cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Reduced muscle... |
OMIM:212140 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Xanthelasma, Hyperapobe... |
OMIM:210250 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Car... |
OMIM:253250 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Atriove... |
OMIM:306955 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Intrauterine growth retardation, Pericardial effusion, Hypertrophic cardiomyopathy |
OMIM:614702 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Danon Disease |
|
Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy, Myocardial necrosis,... |
OMIM:300257 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Intrauterine growth retardation, Ventricular hypertrophy |
OMIM:619051 |
Neuraminidase Deficiency |
|
Cardiomyopathy, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:256550 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, C... |
OMIM:601005 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatocellular necros... |
OMIM:201475 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis |
ORPHA:615 |
Cantú Syndrome |
|
Umbilical hernia, Abnormal heart valve morphology, Patent ductus arteriosus, Hypertrophic cardiom... |
ORPHA:1517 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... |
ORPHA:2041 |
Attrv122I Amyloidosis |
|
Left ventricular hypertrophy, Cardiac amyloidosis, Restrictive cardiomyopathy, Aortic valve steno... |
ORPHA:85451 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myopathy, Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular s... |
OMIM:115197 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Intrauterine growth retard... |
ORPHA:555874 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:370 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Myopathy, Left ventricular hypertrophy, Cardiomyopathy, Intrauterine growth retardation, Hepatome... |
OMIM:617713 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polymicrogyria, Hydrocephalus, Cardiomyopathy, Hepatomegaly, Renal tubular epithelial necrosis, P... |
ORPHA:228308 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Flexion ... |
OMIM:616897 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly, Limb muscle weakness |
OMIM:266500 |
Craniofaciofrontodigital Syndrome |
|
Macroglossia, Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, B... |
ORPHA:363705 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Contractures of the large joints, Abn... |
ORPHA:324410 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:252920 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus, Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral steno... |
OMIM:231005 |
Hemochromatosis, Type 1 |
|
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:235200 |
Lysinuric Protein Intolerance |
|
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Steatorrhea, Hyperala... |
ORPHA:470 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Macroglossia, Ventricular septal defect, Umbilical hernia, Intrauterine growth retardation, Hepat... |
ORPHA:96191 |
Familial Aortic Dissection |
|
Cardiomegaly, Patent ductus arteriosus |
ORPHA:229 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:391428 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Right ventricular hypertroph... |
ORPHA:268 |
Developmental And Epileptic Encephalopathy 95 |
|
Macroglossia, Umbilical hernia, Multiple joint contractures, Hepatomegaly, Arthrogryposis multipl... |
OMIM:618143 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Intrauterine growth retardation |
OMIM:618838 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Hypercholesterolemia, Calcinosis |
OMIM:248370 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polymicrogyria, Enlarged kidney, Knee flexion contracture, Hepatomegaly, Elbow flexion contractur... |
OMIM:608836 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Enlarged kidney, Increased myocardial glycogen content, Myopathy, Hydrocephalus, Ca... |
OMIM:261740 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Facial hypotonia, Ventricular septal defect |
OMIM:618798 |
Gaisböck Syndrome |
|
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... |
ORPHA:90041 |
Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... |
ORPHA:1457 |
Lethal Congenital Contracture Syndrome 10 |
|
Macroglossia, Torticollis, Ventricular septal defect, Intrauterine growth retardation, Overriding... |
OMIM:617022 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
ORPHA:275761 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Camptodactyly of finger, Camptodactyly, Pulmonic stenosis, Atrial septal defe... |
OMIM:602782 |
Mucolipidosis Ii Alpha/Beta |
|
Macroglossia, Diastasis recti, Camptodactyly, Enlarged kidney, Umbilical hernia, Hepatomegaly, My... |
OMIM:252500 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Intrauterine growth retardation, Hepatomegaly, Neonatal death, Arthrogryposis... |
OMIM:608013 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Left ventricular hypertrophy, Atrial septal defect, Hydrocephalus, Bicuspid aortic valve, Patent ... |
OMIM:245600 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly |
ORPHA:465508 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly |
ORPHA:99931 |
Isolated Right Ventricular Hypoplasia |
|
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Sandhoff Disease |
|
Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Fucosidosis |
|
Decreased muscle mass, Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial enlargement, Ca... |
ORPHA:57777 |
Mucopolysaccharidosis Type 3 |
|
Macroglossia, Hydrocephalus, Umbilical hernia, Abnormal mitral valve morphology, Hepatomegaly, Ab... |
ORPHA:581 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hypercholesterolemia |
ORPHA:79259 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly, Intrauterine growth retardation |
ORPHA:255249 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Pigmentary retinopathy, Chorioretinal atrophy, Hypercholesterolemia |
OMIM:118450 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Abnormal h... |
OMIM:601214 |
Complete Atrioventricular Septal Defect |
|
Abnormal cardiac atrium morphology, Primum atrial septal defect, Hepatomegaly, Complete atriovent... |
ORPHA:1329 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly, Limb muscle weakness |
OMIM:619259 |
Congenital Disorder Of Glycosylation, Type It |
|
Rhabdomyolysis, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:614921 |
Glycogen Storage Disease Ii |
|
Macroglossia, Increased muscle glycogen content, Hepatomegaly, Firm muscles, Cardiomegaly, Spleno... |
OMIM:232300 |
Mogs-Cdg |
|
Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Cardiomegaly |
ORPHA:79330 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomega... |
ORPHA:308552 |
Oculocerebrorenal Syndrome Of Lowe |
|
Chorioretinal dysplasia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia, Hypokalemia,... |
ORPHA:534 |
Lethal Acantholytic Erosive Disorder |
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Camptodactyly of toe, Cardiomyopathy, Cardiomegaly, Intrauterine growth retardation |
ORPHA:158687 |
Absence Of The Pulmonary Artery |
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Tetralogy of Fallot, Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart mor... |
ORPHA:980 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Fucosidosis |
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Macroglossia, Hepatomegaly, Flexion contracture, Cardiomegaly, Splenomegaly |
OMIM:230000 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Small hypothenar eminence |
ORPHA:2463 |
Truncus Arteriosus |
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Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal... |
ORPHA:3384 |
Pseudo-Torch Syndrome 3 |
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Cardiomegaly |
OMIM:618886 |
Aicardi-Goutières Syndrome |
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Hepatosplenomegaly, Multiple joint contractures, Hypertrophic cardiomyopathy, Arrhinencephaly, Ca... |
ORPHA:51 |
Congenital Tracheomalacia |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... |
ORPHA:95430 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypertriglyceridemia, Pigmentary retinopathy, Hypercholesterolemia |
OMIM:606721 |
Ogden Syndrome |
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Secundum atrial septal defect, Torticollis, Left atrial enlargement, Ventricular septal defect, A... |
OMIM:300855 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular septal defect, L... |
OMIM:300967 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Bicuspid aortic v... |
OMIM:620066 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Macroglossia, Left ventricular hypertrophy, Lower limb muscle weakness, Hepatomegaly, EMG: myopat... |
ORPHA:365 |
Lowe Oculocerebrorenal Syndrome |
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Bicarbonaturia, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha... |
OMIM:309000 |
Bohring-Opitz Syndrome |
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Bilateral wrist flexion contracture, Cardiomegaly, Intrauterine growth retardation, Lower limb hy... |
ORPHA:97297 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Hepatocellular necrosis, Cardiomegaly |
OMIM:618278 |
Beckwith-Wiedemann Syndrome |
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Macroglossia, Diastasis recti, Enlarged kidney, Umbilical hernia, Hepatomegaly, Leiomyosarcoma, C... |
ORPHA:116 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Cardiomyopathy, Hydrocephal... |
ORPHA:3472 |
Homozygous Familial Hypercholesterolemia |
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Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Histiocytoid Cardiomyopathy |
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Cardiomegaly, Hepatomegaly, Hydrocephalus, Ventricular septal defect |
ORPHA:137675 |
Steinert Myotonic Dystrophy |
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Hypercholesterolemia |
ORPHA:273 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus |
ORPHA:91387 |
Sickle Cell Disease |
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Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:603903 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Abetalipoproteinemia |
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Myopathy, Cardiomegaly, Hepatomegaly, Distal lower limb muscle weakness |
ORPHA:14 |
Liver Disease, Severe Congenital |
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Left atrial enlargement, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Intra... |
OMIM:619991 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Atrial septal dilatation, Hepatomegaly, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
Tropical Endomyocardial Fibrosis |
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Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly... |
ORPHA:75565 |
Williams Syndrome |
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Macroglossia, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Umbilical hernia... |
ORPHA:904 |
Beckwith-Wiedemann Syndrome |
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Macroglossia, Diastasis recti, Enlarged kidney, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Pancr... |
OMIM:130650 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... |
ORPHA:99125 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Hyperbilirubinemia, Elevated circulating creatinine concentration,... |
OMIM:619534 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Macroglossia, Camptodactyly of finger, Flexion contracture of toe, Skeletal muscle atrophy, Hepat... |
OMIM:256040 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Singleton-Merten Syndrome 1 |
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Muscle fiber atrophy, Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve steno... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
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Cardiomegaly, Pericardial effusion, Myocardial calcification, Ventricular hypertrophy |
ORPHA:51608 |
Brunet-Wagner Neurodevelopmental Syndrome |
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Optic atrophy |
OMIM:619690 |