Temperature-sensitive oculocutaneous albinism type 1

Orpha code: 352737OMIM code: 606952

Definicja

An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands, feet, legs, arms and chest (cooler body areas) and white or pale yellow hair on the scalp, axilla and pubic area (warmer body areas). Nystagmus and reduced visual acuity are also noted.

Disease data
Klasyfikacja

Clinical subtype

Synonimy
OCA1-TS
OCA1-TS
TS OCA type 1
TS OCA type 1
Kod ORPHA
352737
Kod OMIM
606952
Kod ICD10
E70.3
Kod ICD11
-

No additional description.

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