Oculocutaneous albinism type 1

Orpha code: 352731OMIM code: 606952

Definicja

A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).

Disease data
Klasyfikacja

Disease

Synonimy
OCA1
OCA1
Kod ORPHA
352731
Kod OMIM
606952
Kod ICD10
E70.3
Kod ICD11
-

No additional description.

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