Griscelli Syndrome, Type 1 |
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Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Griscelli Syndrome, Type 3 |
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Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Albinism, Oculocutaneous, Type Iii |
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Red hair, Partial albinism, Albinism |
OMIM:203290 |
Griscelli Syndrome, Type 2 |
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Accumulation of melanosomes in melanocytes, Silver-gray hair, Seizure, Melanin pigment aggregatio... |
OMIM:607624 |
Hidrotic Ectodermal Dysplasia |
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Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Tietz Syndrome |
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Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Albinism, Oculocutaneous, Type Ib |
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Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Neuroectodermal Melanolysosomal Disease |
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Hypopigmentation of hair, Generalized hyperpigmentation, Premature graying of hair, Seizure, Hypo... |
ORPHA:33445 |
Woolly Hair |
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Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
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Accumulation of melanosomes in melanocytes, Silver-gray hair, Seizure, Melanin pigment aggregatio... |
OMIM:256710 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hyperactivity, Hypopigmentation of hair, Polyphagia, Seizure, Inappropriate laughter, Hypopigment... |
ORPHA:411515 |
Dilution, Pigmentary |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Polyphagia, Hypopigmentation of the skin... |
ORPHA:177910 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Albinism, Oculocutaneous, Type Iv |
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Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Griscelli Syndrome Type 3 |
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Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Obesity And Hypopigmentation |
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Red hair, Polyphagia |
OMIM:620195 |
Albinism, Oculocutaneous, Type Ii |
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Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-... |
ORPHA:98795 |
Obesity Due To Prohormone Convertase I Deficiency |
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Red hair, Hypopigmentation of the skin, Polyphagia, Hypoglycemic seizures |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Red hair, Hypopigmentation of the skin, Polyphagia, Hypoglycemic seizures |
ORPHA:71526 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Oculocutaneous Albinism, Type Viii |
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Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Waardenburg Syndrome Type 2 |
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Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Seizure, Inappropriate laug... |
ORPHA:411511 |
Piebald Trait-Neurologic Defects Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Waardenburg-Shah Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Waardenburg Syndrome Type 1 |
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Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Classic Phenylketonuria |
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Hypopigmentation of hair, Seizure, Self-injurious behavior, Attention deficit hyperactivity disor... |
ORPHA:79254 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Hyperactivity, Abnormal eating behavior, Tongue thrusting, Seizure, Myo... |
ORPHA:98794 |
Oculocutaneous Albinism Type 3 |
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White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Ataxia-Telangiectasia |
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Hypopigmentation of hair, Premature graying of hair, Seizure, Multiple cafe-au-lait spots, Abnorm... |
ORPHA:100 |
Piebaldism |
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Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Hyperactivity, Cryptorchidism, Blue irides, Red hair, Fair hair |
OMIM:614613 |
Griscelli Syndrome Type 2 |
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Hypopigmentation of hair, Partial albinism, Premature graying of hair, Seizure, Iris hypopigmenta... |
ORPHA:79477 |
Oculocutaneous Albinism Type 4 |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Polyphagia, Primary amen... |
ORPHA:398079 |
Acquired Hypertrichosis Lanuginosa |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Bulimia, Polyphagia, Pri... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Bulimia, Polyphagia, Pri... |
ORPHA:177904 |
Oculocutaneous Albinism Type 2 |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Bulimia, Polyphagia, Pri... |
ORPHA:177901 |
Squalene Synthase Deficiency |
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Bilateral cryptorchidism, Seizure, Abnormality of hair pigmentation |
OMIM:618156 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair, Polyphagia, Hypoglycemic seizures |
OMIM:609734 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Bulimia, Polyphagia, Pri... |
ORPHA:98754 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Impulsivity, Cryptorchidism, Polyphagia, Primary amenorrhea, Seizure, H... |
ORPHA:398069 |
Oculocutaneous Albinism Type 1B |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Polyphagia, Primary amen... |
OMIM:176270 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Ermine Phenotype |
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Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Oculocutaneous Albinism Type 1A |
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Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Hermansky-Pudlak Syndrome 1 |
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Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Albinism, Oculocutaneous, Type Ia |
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Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Carney Complex, Type 1 |
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Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Anorexia, Ocular albinism, Melanocy... |
ORPHA:79430 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation |
ORPHA:90354 |