Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Tietz Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Waardenburg Syndrome, Type 2B |
|
Sensorineural hearing impairment, White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Waardenburg Syndrome, Type 2F |
|
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hypermelanotic mac... |
OMIM:619947 |
Ermine Phenotype |
|
Sensorineural hearing impairment, Spotty hyperpigmentation, Albinism, Vitiligo, White eyebrow, Wh... |
OMIM:227010 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Waardenburg Syndrome, Type 4B |
|
Sensorineural hearing impairment, Hypopigmented skin patches, Blue irides, White eyebrow, White e... |
OMIM:613265 |
Abcd Syndrome |
|
Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked potentials, Total intestinal a... |
OMIM:600501 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Waardenburg Syndrome Type 2 |
|
Sensorineural hearing impairment, Premature graying of hair, Hypopigmented skin patches, Hypopigm... |
ORPHA:895 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
White forelock, Macular hyperpigmented dermopathy |
ORPHA:2779 |
Piebald Trait With Neurologic Defects |
|
White forelock, Hearing impairment, Absent pigmentation of the ventral chest |
OMIM:172850 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Waardenburg Syndrome, Type 2A |
|
Sensorineural hearing impairment, Numerous pigmented freckles, Partial albinism, Albinism, White ... |
OMIM:193510 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Piebald Trait-Neurologic Defects Syndrome |
|
Sensorineural hearing impairment, Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypop... |
ORPHA:2885 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Severe sensorineural hearing impairment, White forelock, Patchy hypo- and hyperpigmentation, Nume... |
OMIM:601706 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
White Forelock With Malformations |
|
Poliosis, White forelock |
OMIM:277740 |
Albinism-Deafness Syndrome |
|
Congenital sensorineural hearing impairment, Patchy hypo- and hyperpigmentation, Partial albinism... |
OMIM:300700 |
Waardenburg Syndrome, Type 4A |
|
Sensorineural hearing impairment, Aganglionic megacolon, Blue irides, White eyebrow, White eyelas... |
OMIM:277580 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Sensorineural hearing impairment, Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Abnormality of retinal pigmentation, Hypo... |
ORPHA:897 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Piebaldism, Aga... |
OMIM:172800 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Albinism-Deafness Syndrome |
|
Sensorineural hearing impairment, Heterochromia iridis, Irregular hyperpigmentation, Partial albi... |
ORPHA:998 |
Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Piebaldism |
|
Heterochromia iridis, Hypopigmented skin patches, Hypopigmentation of hair, White eyebrow, White ... |
ORPHA:2884 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Generalized hyperpigmentat... |
ORPHA:33445 |
Vogt-Koyanagi-Harada Disease |
|
Sensorineural hearing impairment, Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnor... |
ORPHA:3437 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality |
OMIM:617519 |
Waardenburg Syndrome Type 1 |
|
Congenital sensorineural hearing impairment, Premature graying of hair, Thick eyebrow, Hypopigmen... |
ORPHA:894 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, EEG abnormality |
ORPHA:411515 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... |
OMIM:601375 |
Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
Ermine Phenotype |
|
Sensorineural hearing impairment, Irregular hyperpigmentation, Ocular albinism, Hypopigmentation ... |
ORPHA:999 |
Waardenburg Syndrome, Type 4C |
|
Sensorineural hearing impairment, Aganglionic megacolon, Blue irides, White eyebrow, White eyelas... |
OMIM:613266 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:614072 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177910 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... |
ORPHA:1215 |
Waardenburg Syndrome |
|
Conductive hearing impairment, Abnormal eyebrow morphology, Premature graying of hair, Hypopigmen... |
ORPHA:3440 |
Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... |
ORPHA:79434 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:352731 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Synophrys, Abnormal auditory evoked potentials |
OMIM:619260 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... |
OMIM:611584 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
EEG abnormality, EEG with focal epileptiform discharges, Hypopigmentation of the skin, Hypopigmen... |
ORPHA:98795 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Multifocal epileptiform discharges, Hypopigmentation of hair, EEG with abnormally slow frequencies |
ORPHA:70472 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
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 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... |
ORPHA:79431 |
Muenke Syndrome |
|
Sensorineural hearing impairment, Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented ... |
ORPHA:53271 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... |
OMIM:203100 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Sensorineural hearing impairment, Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyp... |
ORPHA:3214 |
Griscelli Syndrome Type 2 |
|
Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79477 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Ataxia-Telangiectasia |
|
Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature graying of hair |
ORPHA:100 |
Carney Complex, Type 1 |
|
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair |
OMIM:160980 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hirsutism, Fair hair, Alop... |
ORPHA:79330 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Abnormality of hair pigmentation, Low-set, posteriorly rotated ears, Macr... |
OMIM:618156 |
Hermansky-Pudlak Syndrome 1 |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... |
OMIM:203300 |
Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Optic atrophy, Hearing impairment, Hypopigmented skin patche... |
ORPHA:206436 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, EEG abnormality |
ORPHA:411511 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair |
OMIM:618541 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... |
ORPHA:99027 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hypermelanotic macule, Pigmentary retinopathy, Optic atrophy... |
ORPHA:90321 |
Brittle Cornea Syndrome 1 |
|
Hearing impairment, Red hair |
OMIM:229200 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
EEG abnormality, Hypopigmentation of the skin, Hypopigmentation of hair, EEG with abnormally slow... |
ORPHA:98794 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... |
ORPHA:101085 |
Classic Phenylketonuria |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:79254 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:133540 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:216400 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of... |
ORPHA:3322 |
Chediak-Higashi Syndrome |
|
Ocular albinism, Decreased nerve conduction velocity, Hypopigmentation of the skin, Hypopigmentat... |
OMIM:214500 |
Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Trichorrh... |
ORPHA:238468 |
Trisomy 10P |
|
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... |
ORPHA:171929 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal eyebrow morphology, Aganglionic megacolon, Hypopigment... |
ORPHA:163746 |
Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic at... |
ORPHA:909 |
Vici Syndrome |
|
Sensorineural hearing impairment, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation... |
OMIM:242840 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Sensorineural hearing impairment, EEG abnormality, Ocular albinism, Hypopigmentation of hair, Iri... |
ORPHA:2719 |
Mend Syndrome |
|
Spotty hypopigmentation, Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Koolen-De Vries Syndrome |
|
Overfolded helix, Hypopigmentation of hair, Protruding ear, Abnormality of hair texture |
ORPHA:96169 |
Brittle Cornea Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of hair pigmentation |
ORPHA:90354 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Overfolded helix, Coarse hair, Dry hair, Hypopigmentation of hair, Widow's peak, Posteriorly rota... |
ORPHA:1974 |
Hermansky-Pudlak Syndrome |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... |
ORPHA:79430 |
Syndromic Diarrhea |
|
Woolly hair, Brittle hair, Generalized hypopigmentation, Hypopigmentation of hair, Trichorrhexis ... |
ORPHA:84064 |
Chédiak-Higashi Syndrome |
|
Spotty hyperpigmentation, Abnormality of retinal pigmentation, Decreased nerve conduction velocit... |
ORPHA:167 |
Prader-Willi Syndrome |
|
Generalized hypopigmentation, Hypopigmentation of the skin, Frontal upsweep of hair, Hypopigmenta... |
OMIM:176270 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398079 |
Degcags Syndrome |
|
Sensorineural hearing impairment, Abnormal eyebrow morphology, Hypertrichosis, Low anterior hairl... |
OMIM:619488 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398069 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177901 |
Prader-Willi Syndrome Due To Translocation |
|
Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hyp... |
ORPHA:177907 |
Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:398073 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:739 |
Menkes Disease |
|
Hypopigmentation of hair, Woolly hair, Sparse hair |
ORPHA:565 |
Smith-Lemli-Opitz Syndrome |
|
Sensorineural hearing impairment, Hypopigmentation of hair, Low-set, posteriorly rotated ears, Op... |
ORPHA:818 |
Acrodysostosis With Multiple Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
ORPHA:280651 |
Cystinosis, Nephropathic |
|
Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... |
OMIM:219800 |