| Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
| Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
| White Forelock With Malformations |
|
Poliosis, White forelock, Atrial septal defect |
OMIM:277740 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
| Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... |
OMIM:607624 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
| Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
| Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypospadias, Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Abnormal heart morphology, Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
| Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
| Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:613265 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Cardiomegaly |
OMIM:613576 |
| Waardenburg Syndrome, Type 2A |
|
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... |
OMIM:193510 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Neonatal death, Polymicrogyria |
OMIM:619602 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neonatal death |
OMIM:257100 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... |
ORPHA:895 |
| Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hirsutism, Coarse hair, Cardiomegaly, Splenomegaly, Heparan sulfate excretion in ur... |
OMIM:252920 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Hypopigmentation of the skin, Splenomegaly, Fair ... |
OMIM:269920 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... |
ORPHA:2885 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Premature graying of hair, Generalized hy... |
ORPHA:33445 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Attrv30M Amyloidosis |
|
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Nephropathy |
ORPHA:85447 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Elejalde Disease |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:256710 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... |
ORPHA:897 |
| Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:277580 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Long eyelashes, Cardiomegaly, Synophrys |
OMIM:619064 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Piebaldism |
|
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... |
ORPHA:2884 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... |
ORPHA:894 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... |
ORPHA:79435 |
| Carney Complex, Type 1 |
|
Cardiac myxoma, Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair |
OMIM:160980 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma |
ORPHA:615 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly |
ORPHA:858 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... |
ORPHA:860 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Curly eyelashes, Cardiomegaly, Long eyelashes, Conge... |
OMIM:239850 |
| Naxos Disease |
|
Dilated cardiomyopathy, Onycholysis, Abnormal morphology of right ventricular trabeculae, Nail dy... |
OMIM:601214 |
| Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Sparse scalp hair, A... |
ORPHA:3437 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Hyperpigmentation of the skin, Alopecia, Cardiomegaly, Cardiomyopathy, Splenomegaly |
OMIM:235200 |
| Oculocutaneous Albinism |
|
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... |
ORPHA:55 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... |
OMIM:115197 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Partial albinism, Splenomegaly, Iris hypopigmentation, Hypopigmentation of hair, Pr... |
ORPHA:79477 |
| Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Cardiomegaly, Pigmentary retinopathy, Myocardial fibrosis |
OMIM:253250 |
| Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... |
OMIM:300257 |
| Timothy Syndrome |
|
Cardiomegaly, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Cardiomegaly, Cardiomyopathy, Spl... |
OMIM:256550 |
| Piebald Trait |
|
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... |
OMIM:172800 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:177910 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly |
OMIM:212140 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology, Hypopigmentation of hair |
ORPHA:70472 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... |
ORPHA:3092 |
| Lethal Acantholytic Erosive Disorder |
|
Congenital alopecia totalis, Absent hair, Absent toenail, Cardiomegaly, Cardiomyopathy, Absent ey... |
ORPHA:158687 |
| Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... |
ORPHA:79432 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:618652 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertrichosis, Pericardial effusion, Low anter... |
ORPHA:363705 |
| Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... |
ORPHA:352731 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology |
ORPHA:2221 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... |
OMIM:601375 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Hypertrophic cardiomyopathy, Low anterior hairline, Curly eyelashes, Cardiomegaly, Long eyelashes... |
ORPHA:1517 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... |
ORPHA:85451 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... |
ORPHA:79434 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411515 |
| Refsum Disease, Classic |
|
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Renal tubular acidosis, Hepatomegaly |
OMIM:255120 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Red hair, Fair hair, Blue irides |
OMIM:614613 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... |
ORPHA:1457 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
| Squalene Synthase Deficiency |
|
Hypospadias, Bicuspid aortic valve, Abnormality of hair pigmentation |
OMIM:618156 |
| Mogs-Cdg |
|
Hepatomegaly, Hirsutism, Alopecia, Cardiomegaly, Long eyelashes, Left ventricular hypertrophy, He... |
ORPHA:79330 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Mitral atresia, Double outlet right ve... |
OMIM:306955 |
| Syndromic Diarrhea |
|
Renal hypoplasia, Ventricular septal defect, Bicuspid aortic valve, Hepatomegaly, Abnormal heart ... |
ORPHA:84064 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Cardiomegaly, Dicarboxylic aciduria |
ORPHA:42 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
| Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Premature graying of hair, Multiple cafe-au-lait spots |
ORPHA:100 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Ermine Phenotype |
|
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... |
ORPHA:999 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Exercise-induced myoglobinuria, Dicarbox... |
OMIM:201475 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly... |
OMIM:616897 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... |
ORPHA:79431 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve pro... |
ORPHA:324410 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... |
ORPHA:439 |
| Waardenburg Syndrome |
|
Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal eyebrow morphology, Hetero... |
ORPHA:3440 |
| Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... |
OMIM:203100 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Hydronephrosis, Cardiomegaly, Polycys... |
OMIM:608836 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal concentration of acylcarnitine in the urine |
ORPHA:391428 |
| Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly, Abnormality of the nail |
ORPHA:349 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Generalized bronze hyperpigmentation, Hyperpigmentation of the skin, Cardiomegaly, ... |
ORPHA:465508 |
| Brittle Cornea Syndrome 1 |
|
Mitral valve prolapse, Red hair |
OMIM:229200 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Alopecia of scalp, Hyperpigmentat... |
OMIM:602782 |
| Sickle Cell Anemia |
|
Hepatomegaly, Hematuria, Cardiomegaly, Splenomegaly, Renal insufficiency |
OMIM:603903 |
| Vici Syndrome |
|
Dilated cardiomyopathy, Ocular albinism, Cardiomyopathy, Albinism, Hypopigmentation of the skin, ... |
OMIM:242840 |
| Koolen-De Vries Syndrome |
|
Hypospadias, Bicuspid aortic valve, Ureteral duplication, Hydronephrosis, Abnormality of hair tex... |
ORPHA:96169 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Hepatomegaly, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urin... |
ORPHA:228308 |
| Muenke Syndrome |
|
Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule |
ORPHA:53271 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy |
OMIM:261740 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Oligosacchariduria, Thick eyebrow |
OMIM:230000 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris hypopigmentation, Mult... |
ORPHA:3214 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Cardiomegaly, Overriding aorta |
OMIM:617022 |
| Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... |
ORPHA:1329 |
| Waardenburg Syndrome, Type 4C |
|
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, W... |
OMIM:613266 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
| Hypohidrotic Ectodermal Dysplasia |
|
Nephrotic syndrome, Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, I... |
ORPHA:238468 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Mucopolysacchariduria, Hirsutism, Abnormal mitral valve morphology, Abnormal aortic... |
ORPHA:581 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hirsutism, Low posterior hairline, Cardiomegaly, Synophrys |
ORPHA:2463 |
| Chediak-Higashi Syndrome |
|
Hepatomegaly, Silver-gray hair, Ocular albinism, Hypopigmentation of the skin, Splenomegaly, Iris... |
OMIM:214500 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
3-Methylglutaconic aciduria, Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Craniofaciofrontodigital Syndrome |
|
Abnormal heart morphology, Cardiomegaly |
OMIM:114620 |
| Sandhoff Disease |
|
Hepatomegaly, Urinary incontinence, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98795 |
| Hermansky-Pudlak Syndrome |
|
Partial albinism, Ocular albinism, Long eyelashes, Cardiomyopathy, Hypopigmentation of the skin, ... |
ORPHA:79430 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hyp... |
ORPHA:308552 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Hydronephrosis, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... |
OMIM:245600 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Pollakisuria, Cardiomegaly |
ORPHA:268 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411511 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly |
OMIM:608013 |
| Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation, Mitral valve prolapse, Pulmonic stenosis |
ORPHA:90354 |
| Hoyeraal-Hreidarsson Syndrome |
|
Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of hair, Sparse scalp... |
ORPHA:3322 |
| Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Mucopolysacchariduria, Cardiomegaly, Splenomegaly, Spa... |
OMIM:252500 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Highly arched eyebrow |
OMIM:618143 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Hepatomegaly, Abnormal eyebrow morphology, Splenomegaly, Heterochromi... |
ORPHA:163746 |
| Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Cardiomegaly, Nephr... |
OMIM:130650 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98794 |
| Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... |
ORPHA:980 |
| Truncus Arteriosus |
|
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... |
ORPHA:3384 |
| Bohring-Opitz Syndrome |
|
Hypertrichosis, Urinary retention, Cardiomegaly, Abnormal cardiac septum morphology, Synophrys |
ORPHA:97297 |
| Degcags Syndrome |
|
Hypospadias, Hepatosplenomegaly, Chronic kidney disease, Low posterior hairline, Abnormal eyelash... |
OMIM:619488 |
| Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Pericardial effusion, Hypopigmentation of the skin, Splenome... |
ORPHA:167 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly |
OMIM:618278 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... |
ORPHA:1677 |
| Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Micropenis, Iris hypopigmentation, Hypopigmentation of hair, Fronta... |
OMIM:176270 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Micropenis, Atrial septal defect, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398069 |
| Cystinosis, Nephropathic |
|
Renal Fanconi syndrome, Hepatomegaly, Generalized aminoaciduria, Hypopigmentation of hair, Retina... |
OMIM:219800 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... |
ORPHA:95430 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ureteral stenosis, Iris hypopigmentation, Ocular albinism |
ORPHA:2719 |
| Prader-Willi Syndrome Due To Translocation |
|
Stellate iris, Abnormal heart morphology, Hyperpigmentation of the skin, Hypopigmentation of the ... |
ORPHA:177907 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hypoplastic fingernail |
ORPHA:96191 |
| Greenberg Dysplasia |
|
Hepatomegaly, Absent toenail, Cardiomegaly, Hepatosplenomegaly, Hypoplastic fingernail |
OMIM:215140 |
| Beckwith-Wiedemann Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Ureteral duplication, Congenital megaureter, Cardiomeg... |
ORPHA:116 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Micropenis, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... |
OMIM:300967 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... |
ORPHA:99125 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Hypertrichosis, Hyperpigmentation of the skin, Cardiomegaly, Splenomegaly, Sparse a... |
OMIM:256040 |
| Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Hepatomegaly, Ventricular septal defect, Renal cyst |
ORPHA:137675 |
| Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Sparse eyelashes, Renovascular hypertension, Aplasia/Hypo... |
ORPHA:3472 |
| Abetalipoproteinemia |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly |
ORPHA:14 |
| Menkes Disease |
|
Hypopigmentation of hair, Sparse hair, Bladder diverticulum, Woolly hair |
ORPHA:565 |
| Williams Syndrome |
|
Bicuspid aortic valve, Overriding aorta, Hypoplastic toenails, Abnormal fingernail morphology, Hy... |
ORPHA:904 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair |
ORPHA:1974 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hyp... |
ORPHA:365 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Smith-Lemli-Opitz Syndrome |
|
Hypospadias, Hydronephrosis, Ventricular septal defect, Atrioventricular canal defect, Hypopigmen... |
ORPHA:818 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98754 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:177901 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Micropenis, Hepatosplenomegaly, Cardiomegaly |
ORPHA:51 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... |
ORPHA:75565 |
| Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:398073 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Onycholysis, Cardiomegaly, Subvalvular aortic stenosis, Aortic valve ... |
OMIM:182250 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Hypospadias, Red hair, Fair hair, Blue irides |
ORPHA:280651 |
| Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Myocardial calcification, Pericardial effusion, Nephrocalcinosis, Ventricular ... |
ORPHA:51608 |
