Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Dyschromatosis Universalis Hereditaria |
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Short stature, Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multip... |
ORPHA:241 |
Tietz Syndrome |
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Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Albinism, Oculocutaneous, Type Iii |
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Red hair, Partial albinism, Albinism |
OMIM:203290 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
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Irregular hyperpigmentation, Short stature, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Hypopigmentation of hair, Partial albinism, Short stature |
ORPHA:90023 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
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Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Oculocerebral Syndrome With Hypopigmentation |
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Growth delay, Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Dilution, Pigmentary |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Mediosternal Depigmentation Line |
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Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Albinism, Oculocutaneous, Type Ib |
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Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Griscelli Syndrome, Type 3 |
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Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Raindrop Hypopigmentation |
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Hypopigmentation of the skin |
OMIM:179500 |
Griscelli Syndrome Type 3 |
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Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Thumb Deformity And Alopecia |
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Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
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Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... |
ORPHA:89838 |
Gemignani Syndrome |
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Short stature, Hypopigmented skin patches, Delayed puberty |
ORPHA:2074 |
Griscelli Syndrome, Type 2 |
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Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
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Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Tietz Albinism-Deafness Syndrome |
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White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
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Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... |
ORPHA:79397 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin, Short stature, Albinism |
ORPHA:2786 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
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Hypopigmentation of the skin, Short stature |
OMIM:610798 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
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Increased susceptibility to spontaneous sister chromatid exchange, Short stature, Decreased body ... |
OMIM:618097 |
Oculocutaneous Albinism, Type Viii |
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Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Albinism-Deafness Syndrome |
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Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Albinism-Deafness Syndrome |
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Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
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Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Obesity Due To Prohormone Convertase I Deficiency |
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Obesity, Growth delay, Delayed puberty, Red hair, Failure to thrive, Hypopigmentation of the skin... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Obesity, Growth delay, Delayed puberty, Red hair, Failure to thrive, Hypopigmentation of the skin... |
ORPHA:71526 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Short stature, Obesity, Hypopigmentation of the skin, Iris hypopigmenta... |
ORPHA:177910 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Short stature |
ORPHA:1355 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Fanconi Anemia, Complementation Group J |
|
Multiple cafe-au-lait spots, Intrauterine growth retardation, Postnatal growth retardation, Chrom... |
OMIM:609054 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
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Alopecia, Severe short stature, Hypopigmented skin patches, Ridged fingernail, Fingernail dysplas... |
ORPHA:2251 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... |
ORPHA:79399 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Piebald Trait |
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Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
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Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Anonychia With Flexural Pigmentation |
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Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Abnormal eyebrow morphology, Short stature, Delayed puberty, Generalized hypopigmentation, Irregu... |
ORPHA:1816 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Short stature, Poliosis, Abnormal eyelash morphol... |
ORPHA:3437 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
Fanconi Anemia, Complementation Group G |
|
Multiple cafe-au-lait spots, Abnormality of chromosome stability, Growth delay |
OMIM:614082 |
Immunodeficiency 54 |
|
Chromosome breakage, Short stature, Postnatal growth retardation, Intrauterine growth retardation... |
OMIM:609981 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Severe short stature, Hypopigmented skin patches |
ORPHA:3239 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Intrauterine growth retardation, Failure to thrive, Hypopigmentation of the skin, Ap... |
ORPHA:261304 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation |
ORPHA:411515 |
Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin |
ORPHA:90342 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Short stature, Growth delay, Intrauterine growth retardation, Cafe-au-l... |
OMIM:618541 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability |
OMIM:600546 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Abnormality of chromosome stability, Short stature, Premature graying o... |
ORPHA:100 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... |
ORPHA:158681 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Fair hair, Hypopigmentation of the skin |
OMIM:269920 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Obesity And Hypopigmentation |
|
Red hair, Obesity |
OMIM:620195 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Ermine Phenotype |
|
Hypopigmentation of hair, Short stature, Ocular albinism, Hypopigmented skin patches, Irregular h... |
ORPHA:999 |
Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation, Hypopigmenta... |
OMIM:309400 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... |
OMIM:148820 |
Maternal Uniparental Disomy Of Chromosome X |
|
Hypopigmentation of the skin, Short stature, Low posterior hairline |
ORPHA:261519 |
Classic Phenylketonuria |
|
Growth delay, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Phenylketonuria |
|
Generalized hypopigmentation, Fair hair, Blue irides |
OMIM:261600 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,... |
ORPHA:1807 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:897 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Postnatal gr... |
OMIM:210900 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hypopigmentation of the skin |
OMIM:615980 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... |
ORPHA:69087 |
Sea-Blue Histiocytosis |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:158029 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Abnormality of the nail |
ORPHA:254478 |
Al-Raqad Syndrome |
|
Hypopigmentation of the skin |
OMIM:616459 |
Xeroderma Pigmentosum, Complementation Group C |
|
Freckling, Hypopigmentation of the skin, Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation |
ORPHA:411511 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... |
ORPHA:626 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Short stature, Abnormal eyelash morphology, Silver-gray hair, White ... |
ORPHA:381 |
Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:525 |
Chronic Actinic Dermatitis |
|
Progressive hyperpigmentation, Hypopigmented skin patches |
ORPHA:330064 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Generalized hypopigmentation, Short stature, Iris transillumination defect, Decreased body weight |
OMIM:617306 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauter... |
OMIM:268130 |
Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Cachexia, Melanocytic nevus, Multiple cafe-au... |
ORPHA:1969 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
Hermansky-Pudlak Syndrome 6 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism |
OMIM:614075 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Failure to thrive, Brittle hair, Hypopigmentation of the skin |
OMIM:236200 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ... |
ORPHA:79396 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation |
ORPHA:2720 |
Angelman Syndrome |
|
Fair hair, Hypopigmentation of the skin, Obesity, Blue irides |
OMIM:105830 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation |
ORPHA:98794 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Alopecia, Hypopigmentation of the skin, Short stature |
OMIM:163200 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Short stature |
ORPHA:1493 |
Slc35A2-Cdg |
|
Intrauterine growth retardation, Hypopigmentation of the skin, Failure to thrive in infancy, Shor... |
ORPHA:356961 |
Epidermodysplasia Verruciformis |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:302 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... |
OMIM:193500 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Weight loss, Long... |
ORPHA:79430 |
Alg3-Cdg |
|
Hypopigmentation of the skin |
ORPHA:79321 |
Squalene Synthase Deficiency |
|
Intrauterine growth retardation, Failure to thrive in infancy, Abnormality of hair pigmentation |
OMIM:618156 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Failure to thrive in infancy, Obesity, Abdominal obesity... |
OMIM:176270 |
Rothmund-Thomson Syndrome |
|
Short stature, Sparse eyelashes, Alopecia totalis, Small for gestational age, Sparse eyebrow, Ret... |
ORPHA:2909 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Failure to thrive, Brittle hair, Short stature, Small for gestational age, Woolly hai... |
OMIM:222470 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Short stature, Small for gestational age, Obesity, Delayed puberty, Fai... |
ORPHA:98754 |
Acute Radiation Syndrome |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:454831 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Short stature, Loss of eyelashes, Hypopigmentation of the skin, Hyperpi... |
OMIM:263700 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Short stature, Small for gestational age, Obesity, Delayed puberty, Fai... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Short stature, Small for gestational age, Obesity, Delayed puberty, Fai... |
ORPHA:177904 |
Hermansky-Pudlak Syndrome 8 |
|
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali... |
OMIM:614077 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Obesity, Abdominal obesity, Failure to thrive, Hypopigmentation of the ... |
ORPHA:398079 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Short stature, Small for gestational age, Obesity, Delayed puberty, Fai... |
ORPHA:177901 |
Bloom Syndrome |
|
Sparse eyelashes, Small for gestational age, Paronychia, Growth delay, Severe postnatal growth re... |
ORPHA:125 |
Epidermal Nevus Syndrome |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:35125 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Short stature, Small for gestational age, Woolly hair, Un... |
ORPHA:84064 |
Angelman Syndrome |
|
Obesity, Delayed menarche, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:72 |
Porphyria Variegata |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis |
ORPHA:79473 |
Rothmund-Thomson Syndrome Type 1 |
|
Short stature, Alopecia totalis, Small for gestational age, Growth delay, Sparse or absent eyelas... |
ORPHA:221008 |
Pontocerebellar Hypoplasia, Type 7 |
|
Synophrys, Hypopigmentation of the skin, Hirsutism |
OMIM:614969 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Short stature, Increased body weight, Abdominal obesity, Failure to thr... |
ORPHA:398069 |
Porphyria Cutanea Tarda |
|
Hypopigmentation of the skin, Hirsutism, Hyperpigmentation of the skin, Hypertrichosis |
ORPHA:101330 |
Rothmund-Thomson Syndrome Type 2 |
|
Short stature, Alopecia totalis, Small for gestational age, Growth delay, Sparse or absent eyelas... |
ORPHA:221016 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Hypopigmentation of the skin |
OMIM:620237 |
Mosaic Trisomy 8 |
|
Hypopigmentation of the skin, Hypopigmented skin patches, Short stature |
ORPHA:96061 |
Vici Syndrome |
|
Hypopigmentation of hair, Albinism, Postnatal growth retardation, Ocular albinism, Failure to thr... |
OMIM:242840 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Short stature, Obesity, Intrauterine growth retardation, Stellate iris,... |
ORPHA:177907 |
Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Short stature, Small nail, Intrauterine growth retardation, Hypopigmen... |
OMIM:251300 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Abdominal obesity, Failure to thrive, Hypopigmentation o... |
ORPHA:739 |
Mismatch Repair Cancer Syndrome 1 |
|
Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin |
OMIM:276300 |
Congenital Ptosis |
|
Cafe-au-lait spot, Piebaldism, Long eyelashes |
ORPHA:91411 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair |
OMIM:608233 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Sparse eyebrow, Growth delay, Severe postnatal growth retardation, Sparse hair, Fai... |
OMIM:252500 |
Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Short stature, Failure to thrive in infancy, Retinal pigment epithelial... |
OMIM:219800 |
Chédiak-Higashi Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
Eec Syndrome |
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Short stature, Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrop... |
ORPHA:1896 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Alopecia, Slender build, Small for gestational age, Postnatal growth retardation, Cafe-au-lait sp... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Alopecia, Slender build, Small for gestational age, Postnatal growth retardation, Cafe-au-lait sp... |
ORPHA:363958 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Alopecia, Short stature, Abdominal obesity, Generalized hypopigmentation, Intrauterine growth ret... |
OMIM:619321 |
Hepatoerythropoietic Porphyria |
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Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski... |
ORPHA:95159 |
Degcags Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Small for gestational age, Abnormal eyelas... |
OMIM:619488 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Synophrys, Hypopigmentation of the skin, Obesity |
OMIM:301066 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... |
OMIM:604292 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Broad eyebrow, Failure to thrive, Overweight, Synophrys, Obesity, Melanocytic nevus, Abnormality ... |
OMIM:619475 |
Mosaic Trisomy 20 |
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Intrauterine growth retardation, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin |
ORPHA:1724 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... |
OMIM:129900 |
Focal Dermal Hypoplasia |
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Ridged nail, Linear hyperpigmentation, Brittle hair, Short stature, Supernumerary nipple, Reticul... |
OMIM:305600 |
Congenital Erythropoietic Porphyria |
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Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski... |
ORPHA:79277 |
Oculocerebrorenal Syndrome Of Lowe |
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Sparse scalp hair, Short stature, Fine hair, Delayed puberty, Generalized hypopigmentation, Failu... |
ORPHA:534 |
Sarcoidosis |
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Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin, Weight loss |
ORPHA:797 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Trichiasis, Nail dystrophy, Anonychia, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:95455 |
Pallister-Killian Syndrome |
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Sparse scalp hair, Alopecia, Rhizomelia, Sparse eyelashes, Supernumerary nipple, Mesomelic/rhizom... |
OMIM:601803 |
Sotos Syndrome |
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Sparse anterior scalp hair, Small nail, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:821 |