| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
| Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
| White Forelock With Malformations |
|
White forelock, Poliosis, Atrial septal defect |
OMIM:277740 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
| Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... |
OMIM:607624 |
| Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
| Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
| Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
| Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair, Abnormal heart morphology |
ORPHA:1067 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Sparse hair |
OMIM:613576 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... |
OMIM:620135 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Hypospadias, Generalized hyperpigmentation |
ORPHA:1355 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Nephropathy, Abnormal renal physiology, Cardiomyopathy |
ORPHA:85447 |
| Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Asymmetric septal hypertrophy, Hirsutism, Hepatomegaly, Coarse hair, Cardiomegaly, Spl... |
OMIM:252920 |
| Infantile Sialic Acid Storage Disease |
|
Hypopigmentation of the skin, Nephrotic syndrome, Fair hair, Hepatomegaly, Cardiomegaly, Splenome... |
OMIM:269920 |
| Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
| Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia |
OMIM:257100 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
| Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Long eyelashes, Synophrys, Hepatomegaly |
OMIM:619064 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
| Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... |
ORPHA:897 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly, Abnormality of retinal pigmentation |
ORPHA:858 |
| Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:277580 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
| Naxos Disease |
|
Sparse body hair, Sparse eyebrow, Curly hair, Right ventricular cardiomyopathy, Abnormal morpholo... |
OMIM:601214 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Pericardial effusion, Bicuspid aortic valve, Long eyela... |
OMIM:239850 |
| Hemochromatosis, Type 1 |
|
Alopecia, Hyperpigmentation of the skin, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:235200 |
| Timothy Syndrome |
|
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect |
OMIM:601005 |
| Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
| Mulibrey Nanism |
|
Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pigmentary retinopathy |
OMIM:253250 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Hepat... |
OMIM:256550 |
| Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
| Carney Complex, Type 1 |
|
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Cardiac myxoma, Hirsutism, Red hair |
OMIM:160980 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Reduced renal corticomedullary differentiation, ... |
OMIM:618541 |
| Griscelli Syndrome Type 2 |
|
Premature graying of hair, Iris hypopigmentation, Hypopigmentation of hair, Hepatomegaly, Partial... |
ORPHA:79477 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect |
OMIM:618652 |
| Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatomegaly, Car... |
OMIM:212140 |
| Lethal Acantholytic Erosive Disorder |
|
Absent hair, Absent eyelashes, Absent toenail, Absent fingernail, Absent eyebrow, Congenital alop... |
ORPHA:158687 |
| Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Hypopigmentation of hair, Abnormal heart morphology |
ORPHA:70472 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertrophic cardi... |
ORPHA:85451 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... |
ORPHA:3437 |
| Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177910 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Cantú Syndrome |
|
Long eyelashes, Hypertrophic cardiomyopathy, Low posterior hairline, Curly eyelashes, Cardiomegal... |
ORPHA:1517 |
| Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
| Refsum Disease, Classic |
|
Cardiomegaly, Abnormal renal physiology, Cardiomyopathy |
OMIM:266500 |
| Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Hepatomegaly |
OMIM:255120 |
| Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Sac... |
ORPHA:363705 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... |
ORPHA:255249 |
| Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
| Acquired Hypertrichosis Lanuginosa |
|
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair |
ORPHA:2221 |
| Mogs-Cdg |
|
Alopecia, Fair hair, Left ventricular hypertrophy, Long eyelashes, Atrial septal defect, Hepatosp... |
ORPHA:79330 |
| Oculocutaneous Albinism Type 1 |
|
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... |
ORPHA:352731 |
| Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Dicarboxylic aciduria, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid |
ORPHA:42 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatomegaly,... |
OMIM:201475 |
| Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Bicuspid aortic valve, Hypospadias |
OMIM:618156 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Glomerulonephritis, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... |
ORPHA:324410 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypospadias, Cardiomegaly, Micropenis, Hy... |
OMIM:616897 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411515 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Cardiomegaly, Proteinuria |
OMIM:618886 |
| Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... |
OMIM:306955 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
| Fucosidosis |
|
Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Abnormality of the nail |
ORPHA:349 |
| Syndromic Diarrhea |
|
Cafe-au-lait spot, Ventricular septal defect, Generalized hypopigmentation, Trichorrhexis nodosa,... |
ORPHA:84064 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Red hair, Hypospadias, Blue irides |
OMIM:614613 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal concentration of acylcarnitine in the urine |
ORPHA:391428 |
| Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair |
ORPHA:100 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Generalized bronze hyperpigmentation, Hyperpigmentation of the skin, Hepatomegaly, Cardiomegaly, ... |
ORPHA:465508 |
| Brittle Cornea Syndrome 1 |
|
Red hair, Mitral valve prolapse |
OMIM:229200 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... |
ORPHA:999 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... |
ORPHA:3440 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato... |
OMIM:602782 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... |
ORPHA:228308 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Sickle Cell Disease |
|
Hematuria, Hepatomegaly, Cardiomegaly, Renal insufficiency, Splenomegaly |
OMIM:603903 |
| Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Abnormal cardiac septum morphology, Bicuspid aortic valve, Hypopigmentatio... |
ORPHA:96169 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hypoplastic toenails, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxylic acidu... |
OMIM:608836 |
| Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... |
OMIM:203100 |
| Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... |
OMIM:300257 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
| Cirrhotic Cardiomyopathy |
|
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... |
ORPHA:57777 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy |
OMIM:619259 |
| Fucosidosis |
|
Glycopeptiduria, Hepatomegaly, Oligosacchariduria, Cardiomegaly, Thick eyebrow, Splenomegaly |
OMIM:230000 |
| Sandhoff Disease |
|
Urinary incontinence, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis |
OMIM:208000 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Oligosacchariduria, Hepatomegaly, Card... |
ORPHA:308552 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Hirsutism, Synophrys, Low posterior hairline |
ORPHA:2463 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... |
ORPHA:3214 |
| Mucopolysaccharidosis Type 3 |
|
Pigmentary retinopathy, Thick hair, Abnormal mitral valve morphology, Synophrys, Abnormal aortic ... |
ORPHA:581 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Pollakisuria |
ORPHA:268 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... |
OMIM:261740 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
| Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Hydronephrosis |
OMIM:614921 |
| Chediak-Higashi Syndrome |
|
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Iris hypopigment... |
OMIM:214500 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
| Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... |
ORPHA:238468 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye... |
ORPHA:79430 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98795 |
| Waardenburg Syndrome, Type 4C |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613266 |
| Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Generalized h... |
ORPHA:3322 |
| Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation, Mitral valve prolapse, Pulmonic stenosis |
ORPHA:90354 |
| Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:608013 |
| Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Hypopigmentation of the skin, Brittle hair, Enlarged kidney, Hypertrophic cardiom... |
OMIM:252500 |
| Glycogen Storage Disease Ii |
|
Urinary incontinence, Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Highly arched eyebrow, Hepatomegaly |
OMIM:618143 |
| Vici Syndrome |
|
Hypopigmentation of the skin, Penile hypospadias, Ocular albinism, Albinism, Left ventricular hyp... |
OMIM:242840 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Hypopigmentat... |
ORPHA:163746 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411511 |
| Beckwith-Wiedemann Syndrome |
|
Vesicoureteral reflux, Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcinosis, Enlarged k... |
OMIM:130650 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... |
ORPHA:95430 |
| Truncus Arteriosus |
|
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... |
ORPHA:3384 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... |
ORPHA:1677 |
| Bohring-Opitz Syndrome |
|
Urinary retention, Abnormal cardiac septum morphology, Synophrys, Cardiomegaly, Hypertrichosis |
ORPHA:97297 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hypoplastic fingernail, Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:96191 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98794 |
| Degcags Syndrome |
|
Premature graying of hair, Synophrys, Hepatosplenomegaly, Abnormal eyelash morphology, Hepatomega... |
OMIM:619488 |
| Chédiak-Higashi Syndrome |
|
Hypopigmentation of the skin, Pericardial effusion, Iris hypopigmentation, Large clumps of pigmen... |
ORPHA:167 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
| Prader-Willi Syndrome Due To Translocation |
|
Patent foramen ovale, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of ha... |
ORPHA:177907 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Micropenis, Atrial septal defect |
ORPHA:398069 |
| Ogden Syndrome |
|
Patent foramen ovale, Sparse eyebrow, Ventricular septal defect, Perimembranous ventricular septa... |
OMIM:300855 |
| Cystinosis, Nephropathic |
|
Pigmentary retinopathy, Aminoaciduria, Hypopigmentation of the skin, Stage 5 chronic kidney disea... |
OMIM:219800 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Histiocytoid Cardiomyopathy |
|
Renal cyst, Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:137675 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:618278 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... |
OMIM:300967 |
| Beckwith-Wiedemann Syndrome |
|
Vesicoureteral reflux, Congenital megaureter, Melanocytic nevus, Enlarged kidney, Hypertrophic ca... |
ORPHA:116 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Ureteral stenosis, Hypopigmentation of hair, Ocular albinism |
ORPHA:2719 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Oligosacchariduria, Hepatomegaly, Card... |
ORPHA:365 |
| Abetalipoproteinemia |
|
Cardiomegaly, Hepatomegaly, Abnormality of retinal pigmentation |
ORPHA:14 |
| Yunis-Varon Syndrome |
|
Sparse eyebrow, Aplasia/Hypoplasia of the nails, Sparse scalp hair, Ventricular septal defect, At... |
ORPHA:3472 |
| Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Generalized hypopigmentation, Frontal upsweep of hair, Iris hypopig... |
OMIM:176270 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Micropenis |
ORPHA:398079 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Premature graying of hair, Sparse axillary hair, Hyperpigmentation of the skin, Hypertrichosis, H... |
OMIM:256040 |
| Smith-Lemli-Opitz Syndrome |
|
Atrioventricular canal defect, Multicystic kidney dysplasia, Ventricular septal defect, Hypoplasi... |
ORPHA:818 |
| Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Patent foramen ovale, Aminoaciduria, Dilatation of the ventricular c... |
OMIM:619991 |
| Williams Syndrome |
|
Abnormal cardiac septum morphology, Hypertrophic cardiomyopathy, Blue irides, Nephrolithiasis, Ve... |
ORPHA:904 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis, Hepatosplenomegaly |
ORPHA:51 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair |
ORPHA:1974 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
| Menkes Disease |
|
Hypopigmentation of hair, Bladder diverticulum, Sparse hair, Woolly hair |
ORPHA:565 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98754 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177901 |
| Prader-Willi-Like Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398073 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
| Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, High anterior hairline, Onycholysis, Aortic valve stenosis, Cardiome... |
OMIM:182250 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Low urinary cyclic AMP response to PTH administration, Fair hair, Hypospadias, Blue irides, Red hair |
ORPHA:280651 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pericardial effusion, Nephrocalcinosis, Hyperphosphaturia, Cortical neph... |
ORPHA:51608 |
