Griscelli Syndrome, Type 3 |
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Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair |
OMIM:609227 |
Griscelli Syndrome, Type 1 |
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Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
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Albinism, Red hair, Partial albinism |
OMIM:203290 |
Tietz Syndrome |
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White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... |
ORPHA:42665 |
Uncombable Hair Syndrome |
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Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair |
ORPHA:1410 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
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Albinism |
OMIM:203340 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Griscelli Syndrome Type 3 |
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Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
White Forelock With Malformations |
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White forelock, Atrial septal defect, Poliosis |
OMIM:277740 |
Albinism, Oculocutaneous, Type Ib |
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Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:606952 |
Waardenburg Syndrome, Type 2F |
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Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... |
OMIM:619947 |
Woolly Hair |
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Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... |
ORPHA:170 |
Waardenburg Syndrome, Type 2B |
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Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Hidrotic Ectodermal Dysplasia |
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Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... |
ORPHA:189 |
Griscelli Syndrome, Type 2 |
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Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:607624 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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White forelock, Macular hyperpigmented dermopathy |
ORPHA:2779 |
Albinism, Oculocutaneous, Type Iv |
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Albinism, Blue irides, Hypopigmentation of hair |
OMIM:606574 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Waardenburg Syndrome, Type 4B |
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Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:613265 |
Ermine Phenotype |
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White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... |
OMIM:227010 |
Waardenburg Syndrome, Type 2A |
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Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... |
OMIM:193510 |
Hypotrichosis 8 |
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Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... |
OMIM:278150 |
Oculocutaneous Albinism, Type Viii |
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Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:619165 |
Albinism, Oculocutaneous, Type Ii |
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Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... |
OMIM:203200 |
Waardenburg Syndrome Type 2 |
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Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:895 |
Oculocutaneous Albinism Type 3 |
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Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... |
ORPHA:79433 |
Cardiomyopathy, Dilated, 1I |
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Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Oculocerebral Syndrome With Hypopigmentation |
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Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Abnormal heart morphology, Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Woolly Hair Nevus |
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Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... |
ORPHA:79414 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
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Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... |
OMIM:256710 |
Piebald Trait-Neurologic Defects Syndrome |
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Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... |
ORPHA:2885 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:2786 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
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Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Albinism, Oculocutaneous, Type Vi |
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Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Waardenburg Syndrome, Type 4A |
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Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:277580 |
Piebald Trait With Neurologic Defects |
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White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Waardenburg-Shah Syndrome |
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Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... |
ORPHA:897 |
Neuroectodermal Melanolysosomal Disease |
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Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... |
ORPHA:33445 |
Piebald Trait |
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Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... |
OMIM:172800 |
Piebaldism |
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Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... |
ORPHA:2884 |
Vogt-Koyanagi-Harada Disease |
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Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... |
ORPHA:3437 |
Oculocutaneous Albinism Type 4 |
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Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... |
ORPHA:79435 |
Obesity And Hypopigmentation |
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Red hair |
OMIM:620195 |
Waardenburg Syndrome Type 1 |
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Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... |
ORPHA:894 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Cardiomegaly, Sparse hair |
OMIM:613576 |
Griscelli Syndrome Type 2 |
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Premature graying of hair, Hepatomegaly, Hypopigmentation of hair, Iris hypopigmentation, Splenom... |
ORPHA:79477 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177910 |
Hermansky-Pudlak Syndrome 3 |
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Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:614072 |
Oculocutaneous Albinism Type 2 |
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Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... |
ORPHA:79432 |
Acquired Hypertrichosis Lanuginosa |
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Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair |
ORPHA:2221 |
Oculocutaneous Albinism Type 1B |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... |
ORPHA:79434 |
Oculocutaneous Albinism Type 1 |
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Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... |
ORPHA:352731 |
Carney Complex, Type 1 |
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Multiple lentigines, Red hair, Hirsutism, Cardiac myxoma, Profuse pigmented skin lesions, Freckling |
OMIM:160980 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenome... |
OMIM:618541 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411515 |
Obesity Due To Prohormone Convertase I Deficiency |
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Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Hypertrophic cardiomyopathy, Abnormal heart morphology, Hypopigmentation of hair |
ORPHA:70472 |
Hermansky-Pudlak Syndrome 1 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy, Melanocytic nevus, Albini... |
OMIM:203300 |
Ermine Phenotype |
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Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... |
ORPHA:999 |
Oculocutaneous Albinism Type 1A |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... |
ORPHA:79431 |
Albinism, Oculocutaneous, Type Ia |
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Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... |
OMIM:203100 |
Ataxia-Telangiectasia |
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Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair |
ORPHA:100 |
Waardenburg Syndrome |
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Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:3440 |
Naxos Disease |
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Nail dystrophy, Right ventricular cardiomyopathy, Woolly hair, Curly hair, Abnormal morphology of... |
OMIM:601214 |
Waardenburg Syndrome, Type 4C |
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Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:613266 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Blue irides, Red hair, Fair hair |
OMIM:614613 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... |
ORPHA:3214 |
Muenke Syndrome |
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Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair |
ORPHA:53271 |
Congenital Tricuspid Valve Dysplasia |
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Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
Classic Phenylketonuria |
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Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:79254 |
Brittle Cornea Syndrome 1 |
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Red hair, Mitral valve prolapse |
OMIM:229200 |
Squalene Synthase Deficiency |
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Bicuspid aortic valve, Abnormality of hair pigmentation |
OMIM:618156 |
Syndromic Diarrhea |
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Trichorrhexis nodosa, Hepatomegaly, Hypopigmentation of hair, Brittle hair, Generalized hypopigme... |
ORPHA:84064 |
Hoyeraal-Hreidarsson Syndrome |
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Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene... |
ORPHA:3322 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98795 |
Hypohidrotic Ectodermal Dysplasia |
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Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... |
ORPHA:238468 |
Chediak-Higashi Syndrome |
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Hepatomegaly, Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant mel... |
OMIM:214500 |
Aorta Coarctation |
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Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
Angelman Syndrome Due To A Point Mutation |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411511 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Premature graying of hair, Hypopigmented skin patches, Hepatomegaly, Hypopigmentation of hair, He... |
ORPHA:163746 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair |
OMIM:609734 |
Koolen-De Vries Syndrome |
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Bicuspid aortic valve, Abnormality of hair texture, Hypopigmentation of hair, Abnormal cardiac se... |
ORPHA:96169 |
Brittle Cornea Syndrome |
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Pulmonic stenosis, Abnormality of hair pigmentation, Mitral valve prolapse |
ORPHA:90354 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy, Long eyelashes, Iris hypo... |
ORPHA:79430 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98794 |
Vici Syndrome |
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Atrial septal defect, Hypopigmentation of hair, Cardiomyopathy, Hypopigmentation of the skin, Lef... |
OMIM:242840 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Hyperpigmentation of the skin, Patent foramen ovale, Stellate iris, Hyp... |
ORPHA:177907 |
Chédiak-Higashi Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin, Large clumps of pigment irregularly distr... |
ORPHA:167 |
Degcags Syndrome |
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Premature graying of hair, Hepatomegaly, Hypopigmentation of hair, Dysplastic pulmonary valve, Ab... |
OMIM:619488 |
Magel2-Related Prader-Willi-Like Syndrome |
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Atrial septal defect, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398069 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak |
ORPHA:1974 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398079 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism |
ORPHA:2719 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177901 |
Prader-Willi Syndrome |
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Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:739 |
Menkes Disease |
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Woolly hair, Hypopigmentation of hair, Sparse hair |
ORPHA:565 |
Smith-Lemli-Opitz Syndrome |
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Atrioventricular canal defect, Hypopigmentation of hair, Abnormal eyelash morphology, Atrial sept... |
ORPHA:818 |
Cystinosis, Nephropathic |
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Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Splenomegaly, Retinal pigme... |
OMIM:219800 |