Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Dyschromatosis Universalis Hereditaria |
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Hypermelanotic macule, Short stature, Freckling, Spotty hypopigmentation, Multiple cafe-au-lait s... |
ORPHA:241 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Albinism, Oculocutaneous, Type Iii |
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Partial albinism, Albinism, Red hair |
OMIM:203290 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
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Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches, Short stature |
ORPHA:2435 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Short stature |
ORPHA:90023 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
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Alopecia, Hypopigmentation of the skin, Sparse body hair, Onychogryposis of toenails, Dystrophic ... |
OMIM:617294 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Dilution, Pigmentary |
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Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Oculocerebral Syndrome With Hypopigmentation |
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Hypopigmentation of the skin, Growth delay, Silver-gray hair |
OMIM:257800 |
Mediosternal Depigmentation Line |
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Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Albinism, Oculocutaneous, Type Ib |
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Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Raindrop Hypopigmentation |
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Hypopigmentation of the skin |
OMIM:179500 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Thumb Deformity And Alopecia |
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Short stature, Increased groin pigmentation with raindrop depigmentation, Alopecia |
OMIM:188150 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
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Failure to thrive, Hypopigmentation of the skin, Abnormal fingernail morphology, Hyperpigmentatio... |
ORPHA:89838 |
Gemignani Syndrome |
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Hypopigmented skin patches, Delayed puberty, Short stature |
ORPHA:2074 |
Griscelli Syndrome, Type 2 |
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Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hyperpigmentation of the skin, Hypopigmented skin patches |
ORPHA:2819 |
Loose Anagen Hair Syndrome |
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Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Short stature |
ORPHA:2786 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
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Mixed hypo- and hyperpigmentation of the skin, Nail dysplasia, Hypermelanotic macule, Alopecia, M... |
ORPHA:79397 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
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Hypopigmentation of the skin, Short stature |
OMIM:610798 |
Tietz Albinism-Deafness Syndrome |
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White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation |
OMIM:103500 |
Oculocutaneous Albinism, Type Viii |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Albinism-Deafness Syndrome |
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Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Albinism-Deafness Syndrome |
|
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... |
ORPHA:998 |
Waardenburg Syndrome, Type 2A |
|
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... |
OMIM:193510 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
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Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... |
OMIM:145250 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Growth delay, Hypopigmentation of the skin, Childhood-onset truncal obesity, D... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Growth delay, Hypopigmentation of the skin, Childhood-onset truncal obesity, D... |
ORPHA:71526 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair, Short stature |
ORPHA:1355 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Short stature, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Obe... |
ORPHA:177910 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
Albinism, Oculocutaneous, Type Vi |
|
Abnormal hair morphology, Generalized hypopigmentation |
OMIM:113750 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Severe short stature, Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, ... |
ORPHA:2251 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Mixed hypo- and hyperpigmentation of the skin, Spotty hyperpigmentation, Hypermelanotic macule, N... |
ORPHA:79399 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Abnormal eyebrow morphology, Generalized hirsutism, Irregular hyperpigmentation, Short stature, G... |
ORPHA:1816 |
Anonychia With Flexural Pigmentation |
|
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation |
OMIM:106750 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... |
ORPHA:33445 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Vogt-Koyanagi-Harada Disease |
|
Sparse scalp hair, Abnormal eyebrow morphology, Short stature, Poliosis, Vitiligo, Abnormal eyela... |
ORPHA:3437 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:277580 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Premature graying of hair, Iris hypopigmentation, White hair |
ORPHA:79476 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Severe short stature, Hypopigmented skin patches |
ORPHA:3239 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Failure to thrive, Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:261304 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Growth delay, Generalized hypopigmentation |
OMIM:257790 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Obesity |
ORPHA:411515 |
Piebaldism |
|
Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia iridis, Piebal... |
ORPHA:2884 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Multiple cafe-au-lait spots, Intrauterine growth retardation |
OMIM:609054 |
Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin, Freckles in sun-exposed areas |
ORPHA:90342 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:614072 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Growth delay, Short stature, Hypopigmentation of the skin, Hypopigmentation of hair, Cafe-au-lait... |
OMIM:618541 |
Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Hyperpigmentation of the ski... |
ORPHA:158681 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... |
ORPHA:79434 |
Hypotrichosis 8 |
|
Sparse scalp hair, Fair hair, Woolly hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:601220 |
Immunodeficiency 54 |
|
Failure to thrive, Short stature, Hyperpigmentation of the skin, Postnatal growth retardation, In... |
OMIM:609981 |
Infantile Sialic Acid Storage Disease |
|
Hypopigmentation of the skin, Failure to thrive, Fair hair |
OMIM:269920 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Abnormality of hair texture, Nail dystrophy, Nail dysplasia |
OMIM:601957 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:352731 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Short stature, Hypopigmentation of hair, Iris hypop... |
ORPHA:999 |
Menkes Disease |
|
Sparse hair, Brittle hair, Alopecia, Hypopigmentation of the skin, Short stature, Intrauterine gr... |
OMIM:309400 |
Al-Raqad Syndrome |
|
Hypopigmentation of the skin |
OMIM:616459 |
Waardenburg Syndrome, Type 3 |
|
Blue irides, Partial albinism, Synophrys, Heterochromia iridis, White forelock, Premature graying... |
OMIM:148820 |
Maternal Uniparental Disomy Of Chromosome X |
|
Hypopigmentation of the skin, Low posterior hairline, Short stature |
ORPHA:261519 |
Phenylketonuria |
|
Fair hair, Blue irides, Generalized hypopigmentation |
OMIM:261600 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... |
ORPHA:79431 |
Classic Phenylketonuria |
|
Hypopigmentation of the skin, Growth delay, Hypopigmentation of hair |
ORPHA:79254 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse hair, Abnormal hair pattern, Sparse lateral eyebrow, Sparse lower eyelashes, Distichiasis,... |
ORPHA:1807 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Severe intrauterine growth retardation, Low anterior hairline, Postnatal growt... |
ORPHA:73272 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Waardenburg Syndrome Type 1 |
|
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... |
ORPHA:894 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Generalized reticulate brown pigmentation, Hypopigmentation of the skin, Fragile nails, Subungual... |
ORPHA:69087 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypopigmentation of the skin, Abdominal obesity |
OMIM:615980 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... |
ORPHA:897 |
Hermansky-Pudlak Syndrome 1 |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... |
OMIM:203300 |
Sea-Blue Histiocytosis |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:158029 |
Lichen Planus Pemphigoides |
|
Abnormality of the nail, Hypopigmented streaks |
ORPHA:254478 |
Griscelli Syndrome Type 2 |
|
Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79477 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Short stature, Silver-gray hair, Iris hypopigmentation, Abnormal eye... |
ORPHA:381 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... |
OMIM:203100 |
Large Congenital Melanocytic Nevus |
|
Congenital giant melanocytic nevus, Generalized hirsutism, Abnormality of skin pigmentation, Hypo... |
ORPHA:626 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Obesity |
ORPHA:411511 |
Chronic Actinic Dermatitis |
|
Hypopigmented skin patches, Progressive hyperpigmentation |
ORPHA:330064 |
Lichen Planopilaris |
|
Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches, Alopecia |
ORPHA:525 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98795 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Generalized hypopigmentation, Short stature, Cachexia, Melan... |
ORPHA:1969 |
Waardenburg Syndrome, Type 4C |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613266 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... |
ORPHA:3214 |
Carney Complex, Type 1 |
|
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair |
OMIM:160980 |
Attenuated Chédiak-Higashi Syndrome |
|
Ocular albinism, Generalized hypopigmentation |
ORPHA:352723 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypopigmented skin patches, Alopecia |
ORPHA:3143 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... |
ORPHA:3440 |
Hermansky-Pudlak Syndrome 6 |
|
Hypopigmentation of the skin, Albinism, Ocular albinism |
OMIM:614075 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ocular albinism, Short stature, Generalized hypopigmentation, Iris hypopigmentation, White hair |
ORPHA:2720 |
Angelman Syndrome |
|
Hypopigmentation of the skin, Obesity, Fair hair, Blue irides |
OMIM:105830 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Generalized reticulate brown pigmentation, Alopecia, Hypopigmentation of the s... |
ORPHA:79396 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypopigmentation of the skin, Failure to thrive, Brittle hair |
OMIM:236200 |
Bloom Syndrome |
|
Growth delay, Hypertrichosis, Postnatal growth retardation, Small for gestational age, Hypopigmen... |
OMIM:210900 |
Waardenburg Syndrome, Type 2E |
|
Ocular albinism, Blue irides, Iris hypopigmentation, White eyebrow, White eyelashes, Heterochromi... |
OMIM:611584 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Obesity |
ORPHA:98794 |
Vici Syndrome |
|
Hypopigmentation of the skin, Abnormality of retinal pigmentation, Short stature |
ORPHA:1493 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypopigmentation of the skin, Growth delay, Short stature, Alopecia |
OMIM:163200 |
Epidermodysplasia Verruciformis |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:302 |
Vici Syndrome |
|
Failure to thrive, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Albin... |
OMIM:242840 |
Porphyria, Congenital Erythropoietic |
|
Hypertrichosis, Absent eyebrow, Alopecia, Hypopigmentation of the skin, Short stature, Hyperpigme... |
OMIM:263700 |
Waardenburg Syndrome, Type 1 |
|
Thick eyebrow, Blue irides, Partial albinism, White eyebrow, White eyelashes, Synophrys, Heteroch... |
OMIM:193500 |
Hermansky-Pudlak Syndrome |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... |
ORPHA:79430 |
Alg3-Cdg |
|
Hypopigmentation of the skin |
ORPHA:79321 |
Slc35A2-Cdg |
|
Hypopigmentation of the skin, Intrauterine growth retardation, Failure to thrive in infancy, Shor... |
ORPHA:356961 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Intrauterine growth retardation, Failure to thrive in infancy |
OMIM:618156 |
Chediak-Higashi Syndrome |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Silver-gray hair, Giant ... |
OMIM:214500 |
Prader-Willi Syndrome |
|
Abdominal obesity, Generalized hypopigmentation, Hypopigmentation of the skin, Short stature, Fro... |
OMIM:176270 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Failure to thrive, Small for gestational age, Hypopigmentation of the skin, Short stature, Hypopi... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Small for gestational age, Hypopigmentation of the skin, Short stature, Hypopi... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Small for gestational age, Hypopigmentation of the skin, Short stature, Hypopi... |
ORPHA:177904 |
Trichohepatoenteric Syndrome 1 |
|
Failure to thrive, Intrauterine growth retardation, Woolly hair, Sparse hair, Brittle hair, Gener... |
OMIM:222470 |
Rothmund-Thomson Syndrome |
|
Nail dysplasia, Reticular hyperpigmentation, Sparse hair, Sparse eyebrow, Sparse eyelashes, Hypop... |
ORPHA:2909 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Small for gestational age, Hypopigmentation of the skin, Short stature, Hypopi... |
ORPHA:177901 |
Buschke-Ollendorff Syndrome |
|
Short stature, Generalized hypopigmentation |
ORPHA:1306 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of hair, Obe... |
ORPHA:398079 |
Syndromic Diarrhea |
|
Woolly hair, Brittle hair, Generalized hypopigmentation, Small for gestational age, Short stature... |
ORPHA:84064 |
Xeroderma Pigmentosum, Complementation Group C |
|
Hypopigmentation of the skin |
OMIM:278720 |
Epidermal Nevus Syndrome |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:35125 |
Prader-Willi-Like Syndrome |
|
Failure to thrive, Small for gestational age, Hypopigmentation of the skin, Short stature, Hypopi... |
ORPHA:398073 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Short stature, Hypopigmentation of the skin, Hypopigmentati... |
ORPHA:398069 |
Bloom Syndrome |
|
Abdominal obesity, Growth delay, Patchy alopecia, Sparse eyelashes, Hypopigmentation of the skin,... |
ORPHA:125 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hypopigmentation of the skin, Hirsutism, Synophrys |
OMIM:614969 |
Rothmund-Thomson Syndrome Type 1 |
|
Nail dysplasia, Sparse hair, Small for gestational age, Hypopigmentation of the skin, Aplasia/Hyp... |
ORPHA:221008 |
Porphyria Variegata |
|
Hypopigmentation of the skin, Hypertrichosis, Hyperpigmentation of the skin |
ORPHA:79473 |
Angelman Syndrome |
|
Fair hair, Hypopigmentation of the skin, Delayed menarche, Iris hypopigmentation, Obesity |
ORPHA:72 |
Porphyria Cutanea Tarda |
|
Hypopigmentation of the skin, Hirsutism, Hypertrichosis, Hyperpigmentation of the skin |
ORPHA:101330 |
Rothmund-Thomson Syndrome Type 2 |
|
Nail dysplasia, Sparse hair, Small for gestational age, Hypopigmentation of the skin, Aplasia/Hyp... |
ORPHA:221016 |
Mosaic Trisomy 8 |
|
Hypopigmentation of the skin, Hypopigmented skin patches, Short stature |
ORPHA:96061 |
Prader-Willi Syndrome |
|
Abdominal obesity, Failure to thrive, Short stature, Hypopigmentation of the skin, Hypopigmentati... |
ORPHA:739 |
Mismatch Repair Cancer Syndrome 1 |
|
Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling |
OMIM:276300 |
Galloway-Mowat Syndrome 1 |
|
Short stature, Hypopigmentation of the skin, Small for gestational age, Intrauterine growth retar... |
OMIM:251300 |
Prader-Willi Syndrome Due To Translocation |
|
Stellate iris, Short stature, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopi... |
ORPHA:177907 |
Hermansky-Pudlak Syndrome 2 |
|
Ocular albinism, Fair hair, Generalized hypopigmentation, Albinism, Aberrant melanosome maturation |
OMIM:608233 |
Congenital Ptosis |
|
Cafe-au-lait spot, Long eyelashes, Piebaldism |
ORPHA:91411 |
Mucolipidosis Ii Alpha/Beta |
|
Failure to thrive, Sparse hair, Brittle hair, Sparse eyebrow, Hypopigmentation of the skin, Sever... |
OMIM:252500 |
Eec Syndrome |
|
Thick eyebrow, Sparse eyebrow, Generalized hypopigmentation, Short stature, Coarse hair, Fine hai... |
ORPHA:1896 |
Chédiak-Higashi Syndrome |
|
Spotty hyperpigmentation, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypo... |
ORPHA:167 |
Cystinosis, Nephropathic |
|
Short stature, Retinal pigment epithelial mottling, Hypopigmentation of the skin, Hypopigmentatio... |
OMIM:219800 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Abdominal obesity, Alopecia, Short stature, Generalized hypopigmentation, Intrauterine growth ret... |
OMIM:619321 |
Hepatoerythropoietic Porphyria |
|
Hypopigmentation of the skin, Facial hypertrichosis, Hyperpigmentation of the skin, Loss of eyela... |
ORPHA:95159 |
Degcags Syndrome |
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Abnormal eyebrow morphology, Hypertrichosis, Low anterior hairline, Failure to thrive, Small for ... |
OMIM:619488 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Slender build, Fair hair, Postnatal growth retardation, Alopecia, Hypopigmentation of the skin, S... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Slender build, Fair hair, Postnatal growth retardation, Alopecia, Hypopigmentation of the skin, S... |
ORPHA:363958 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hypopigmentation of the skin, Obesity, Synophrys |
OMIM:301066 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Sparse scalp hair, Fair hair, Blue irides, Sparse eyebrow, Facial hirsutism, Generalized hypopigm... |
OMIM:604292 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Failure to thrive, Intrauterine growth retardation, Decreased body weight, Thick eyebrow, Hypopig... |
OMIM:619475 |
Focal Dermal Hypoplasia |
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Nail dysplasia, Reticular hyperpigmentation, Sparse hair, Brittle hair, Supernumerary nipple, Hyp... |
OMIM:305600 |
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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Nail dysplasia, Sparse scalp hair, Fair hair, Sparse hair, Blue irides, Sparse eyebrow, Generaliz... |
OMIM:129900 |
Congenital Erythropoietic Porphyria |
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Hypopigmentation of the skin, Facial hypertrichosis, Hyperpigmentation of the skin, Loss of eyela... |
ORPHA:79277 |
Oculocerebrorenal Syndrome Of Lowe |
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Sparse scalp hair, Failure to thrive, Short stature, Generalized hypopigmentation, Fine hair, Del... |
ORPHA:534 |
Sarcoidosis |
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Hypopigmentation of the skin, Weight loss, Hyperpigmentation of the skin, Alopecia |
ORPHA:797 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Hypopigmentation of the skin, Trichiasis, Anonychia, Hyperpigmentation of the skin, Nail dystrophy |
ORPHA:95455 |
Pallister-Killian Syndrome |
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Sparse scalp hair, Growth delay, Sparse hair, Sparse eyebrow, Alopecia, Hypopigmentation of the s... |
OMIM:601803 |
Sotos Syndrome |
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Hypopigmentation of the skin, Sparse anterior scalp hair, Hyperpigmentation of the skin, Small nail |
ORPHA:821 |