| Retinitis Pigmentosa, Late-Adult Onset |
|
Rod-cone dystrophy |
OMIM:268025 |
| Cone-Rod Dystrophy, X-Linked, 2 |
|
Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:300085 |
| Leber Congenital Amaurosis 13 |
|
Retinal dystrophy |
OMIM:612712 |
| Retinitis Pigmentosa 67 |
|
Rod-cone dystrophy |
OMIM:615565 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Cone-Rod Dystrophy 19 |
|
Cone/cone-rod dystrophy, Retinal dystrophy |
OMIM:615860 |
| Retinitis Pigmentosa 24 |
|
Rod-cone dystrophy, Cone dystrophy |
OMIM:300155 |
| Retinitis Pigmentosa, Y-Linked |
|
Rod-cone dystrophy |
OMIM:400004 |
| Retinitis Pigmentosa 55 |
|
Rod-cone dystrophy |
OMIM:613575 |
| Retinoschisis, Autosomal Dominant |
|
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation |
OMIM:180270 |
| Stargardt Disease 1 |
|
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Choroidal Dystrophy, Central Areolar, 3 |
|
Chorioretinal atrophy, Drusen |
OMIM:613144 |
| Macular Dystrophy, Patterned, 2 |
|
Foveal hyperpigmentation, Drusen |
OMIM:608970 |
| Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Lattice retinal degeneration, Retinal detachment |
OMIM:150500 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization |
OMIM:615439 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
| Exudative Vitreoretinopathy 7 |
|
Retinal hole, Vitreoretinopathy, Retinal degeneration |
OMIM:617572 |
| Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
| Coloboma Of Optic Nerve |
|
Retinal detachment |
OMIM:120430 |
| Retinal Detachment |
|
Retinal detachment |
OMIM:180050 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Retinitis Pigmentosa 36 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... |
OMIM:610599 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold |
OMIM:605750 |
| Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... |
OMIM:312700 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
| Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment |
OMIM:304030 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment |
OMIM:614224 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... |
OMIM:180210 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... |
OMIM:603075 |
| Retinitis Pigmentosa 13 |
|
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration |
OMIM:600059 |
| Leber Congenital Amaurosis 19 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration |
OMIM:618513 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Retinitis Pigmentosa 38 |
|
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor |
OMIM:613862 |
| Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... |
OMIM:610359 |
| Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration |
OMIM:615922 |
| Retinitis Pigmentosa 84 |
|
Macular atrophy, Rod-cone dystrophy, Macular coloboma |
OMIM:618220 |
| Late-Onset Retinal Degeneration |
|
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits |
OMIM:605670 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy |
OMIM:600790 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
| Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... |
ORPHA:179 |
| Retinopathy Of Prematurity |
|
Abnormal macular morphology, Tractional retinal detachment, Abnormal retinal vascular morphology,... |
ORPHA:90050 |
| Retinitis Pigmentosa 50 |
|
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... |
OMIM:616468 |
| Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
| Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... |
OMIM:609913 |
| Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Irvan Syndrome |
|
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... |
ORPHA:209943 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... |
OMIM:305390 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment |
OMIM:193230 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Retinal Dystrophy And Obesity |
|
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy |
OMIM:616188 |
| Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... |
OMIM:618144 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... |
OMIM:193235 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... |
OMIM:618654 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... |
OMIM:133780 |
| Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
| Cantu Syndrome |
|
Short hallux, Erlenmeyer flask deformity of the femurs, Broad first metatarsal, Pericardial effus... |
OMIM:239850 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615558 |
| Stickler Syndrome, Type V |
|
Vitreoretinopathy, Retinal detachment |
OMIM:614284 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Contractures of the large joints, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
| Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Cardiomegaly, Hydrocephalus, Hepatomegaly |
ORPHA:858 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Peripheral vitreoretinal degeneration, Retinal detachment |
OMIM:614292 |
| Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus |
OMIM:269920 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy |
OMIM:617713 |
| Danon Disease |
|
EMG: myopathic abnormalities, Myocardial fibrosis, Generalized amyotrophy, Cardiomegaly, Dilated ... |
OMIM:300257 |
| Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Cardiomega... |
OMIM:601005 |
| Morning Glory Disc Anomaly |
|
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment |
ORPHA:35737 |
| Carnitine Deficiency, Systemic Primary |
|
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Myopathy,... |
OMIM:212140 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Cardiomegaly |
OMIM:613576 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Short hallux, Finger syndactyly, Abnormal heart valve morphology, Broad hallux phalanx, Patent du... |
ORPHA:1517 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Intrauterine growth retardation, Pericardial con... |
OMIM:253250 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent f... |
OMIM:618652 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly |
OMIM:619170 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... |
OMIM:115197 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Flexion contracture, Limb undergrowth, Decreased fibular ... |
OMIM:616897 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Exercise-induced rhabdomyolysis, Hepatomegaly, Cardiomegaly, Hypertrophi... |
OMIM:201475 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Limb muscle weakness, Cardiomegaly, Short fourth metatarsal |
OMIM:266500 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy |
ORPHA:42 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Intrauterine growth retardation, Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Congenital Tricuspid Valve Dysplasia |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Patent foramen ov... |
ORPHA:555874 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered toe, Increased muscle lipid content, Enlarged kidney, Abnormality of neuronal migration, ... |
OMIM:608836 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis |
ORPHA:615 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overlapping fingers, Ventricular septal defect, Torticollis, Cardiomegaly, Overriding aorta, Intr... |
OMIM:617022 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Pachygyria, Renal tubular epithelial necrosis, Abnormality of neuronal migration, Hepatomegaly, P... |
ORPHA:228308 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Car... |
ORPHA:324410 |
| Developmental And Epileptic Encephalopathy 95 |
|
Short 4th metacarpal, Macroglossia, Arthrogryposis multiplex congenita, Short fourth metatarsal, ... |
OMIM:618143 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly |
OMIM:600649 |
| Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Rocker bottom foot, Camptodactyly of finger, Atrial septal defect, Flexion contracture of finger,... |
OMIM:602782 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Sandal gap, Metatarsus adductus, Cardiomegaly, Congenital diaphragmatic hernia, Patent foramen ov... |
OMIM:245600 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly |
OMIM:235200 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Metaphyseal cupping, Cardiomegaly, Micromelia |
OMIM:613320 |
| Mucolipidosis Ii Alpha/Beta |
|
Macroglossia, Diastasis recti, Split hand, Carpal bone hypoplasia, Umbilical hernia, Hepatomegaly... |
OMIM:252500 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Hepatomegaly... |
ORPHA:96191 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal muscle weakness in lower l... |
ORPHA:268 |
| Familial Aortic Dissection |
|
Patent ductus arteriosus, Cardiomegaly |
ORPHA:229 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:391428 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
| Aorta Coarctation |
|
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... |
ORPHA:1457 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Decreased muscle mass, Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormality of metacarpophalange... |
ORPHA:465508 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Lethal Acantholytic Erosive Disorder |
|
2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of toe, 3-4 finger syndactyly, Cardio... |
ORPHA:158687 |
| Beck-Fahrner Syndrome |
|
Facial hypotonia, Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... |
OMIM:306955 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Biventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy |
OMIM:261740 |
| Fucosidosis |
|
Macroglossia, Flexion contracture, Hepatomegaly, Cardiomegaly, Splenomegaly, Coxa valga |
OMIM:230000 |
| Mucopolysaccharidosis Type 3 |
|
Genu valgum, Macroglossia, Abnormal mitral valve morphology, Flexion contracture, Abnormal aortic... |
ORPHA:581 |
| Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly |
ORPHA:349 |
| Gaucher Disease, Perinatal Lethal |
|
Arthrogryposis multiplex congenita, Hepatomegaly, Cardiomegaly, Splenomegaly, Intrauterine growth... |
OMIM:608013 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Thin metacarpal cortices, Thenar muscle atrophy, Hypoplasia of the mus... |
ORPHA:2463 |
| Glycogen Storage Disease Ii |
|
Macroglossia, Firm muscles, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Greenberg Dysplasia |
|
Postaxial hand polydactyly, Abnormal ossification involving the femoral head and neck, Short phal... |
OMIM:215140 |
| Sandhoff Disease |
|
Macroglossia, Hepatomegaly, Cardiomegaly, Skeletal muscle atrophy, Hepatosplenomegaly |
OMIM:268800 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Limb muscle weakness, Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... |
ORPHA:1329 |
| Truncus Arteriosus |
|
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Aplasia/hypoplasia involving... |
ORPHA:3384 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... |
OMIM:601214 |
| Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Facial hypotonia, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertr... |
ORPHA:308552 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Intrauterine growth retardation, Cardiomegaly |
ORPHA:255249 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis |
OMIM:618278 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Right ventricular hype... |
OMIM:300967 |
| Bohring-Opitz Syndrome |
|
Bilateral wrist flexion contracture, Facial hypotonia, Lower limb hypertonia, Congenital contract... |
ORPHA:97297 |
| Yunis-Varon Syndrome |
|
Slender long bones with narrow diaphyses, Metatarsus adductus, Cardiomegaly, Aplasia/hypoplasia o... |
ORPHA:3472 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
EMG: myopathic abnormalities, Macroglossia, Facial hypotonia, Flexion contracture, Lower limb mus... |
ORPHA:365 |
| Beckwith-Wiedemann Syndrome |
|
Macroglossia, Diastasis recti, Enlarged kidney, Large placenta, Visceromegaly, Umbilical hernia, ... |
ORPHA:116 |
| Sickle Cell Anemia |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Arachnodactyly, Patent ductus arteriosus, Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Abetalipoproteinemia |
|
Hepatomegaly, Distal lower limb muscle weakness, Cardiomegaly, Talipes equinovarus, Myopathy |
ORPHA:14 |
| Aicardi-Goutières Syndrome |
|
Arrhinencephaly, Multiple joint contractures, Cardiomegaly, Myositis, Hepatosplenomegaly, Hypertr... |
ORPHA:51 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Hydrocephalus, Ventricular septal defect |
ORPHA:137675 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Cardiomegaly, Spina bifida occulta, Mi... |
ORPHA:904 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Clubbing of fingers, Camptodactyly of finger, Macroglossia, Flexion contracture of finger, Flexio... |
OMIM:256040 |
| Tropical Endomyocardial Fibrosis |
|
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... |
ORPHA:75565 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... |
ORPHA:99125 |
| Singleton-Merten Syndrome 1 |
|
Genu valgum, Expanded metacarpals with widened medullary cavities, Tendon rupture, Mitral valve c... |
OMIM:182250 |
| Beckwith-Wiedemann Syndrome |
|
Macroglossia, Diastasis recti, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegal... |
OMIM:130650 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Visceral Steatosis, Congenital |
|
Neonatal death, Myocardial steatosis |
OMIM:228100 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pericardial effusion, Abnormal calcification of the carpal bones, Myocar... |
ORPHA:51608 |
| Homozygous Familial Hypercholesterolemia |
|
Abnormal tendon morphology, Myocardial steatosis, Tendon xanthomatosis |
ORPHA:391665 |
