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Oculocutaneous albinism type 6

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Name:
Oculocutaneous albinism type 6
Description:
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.
ORPHAcode:
370097
Synonyms:
OCA6
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
SLC24A5
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Ocular and oculocutaneous albinism - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    TYR 100.00 1
    OCA2 100.00 1
    TYRP1 100.00 0
    SLC45A2 100.00 0
    SLC24A5 100.00 0
    LRMDA 100.00 0
    GPR143 100.00 1
    DCT 100.00 0