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Table 1 Clinical features of the Probands

From: NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism

Patient no Sex Age Skin color Hair color Iris color Amblyopia Nystagmus Photophobia
1 M 64 years White White Brown Positive Positive Positive
2 M 5 years Creamy white White Brown Positive Positive Positive
3 M 4 years White White Pink Positive Positive Positive
4 F 1 years White White Little Pink Positive Positive Positive
5 F 8 months Creamy white White Little Pink Positive Positive Positive
6 F 3 years Creamy white Light Blond Little Pink Positive Positive Positive
7 F 5 years White White Little Pink Positive Positive Positive
8 M 6 years White White Blue-gray Positive Positive Positive
9 M 3 years Creamy white White Little Pink Positive Positive Positive
10 M 2 years Creamy white Light Blond Light brown Positive Positive Positive
11 M 8 years Creamy white Light Blond Blue-gray Positive Positive Positive
12 F 28 years Creamy white Light Blond Blue-gray Positive Positive Positive
13 F 2 months White White Blue-gray Unknown Unknown Unknown
14 F 27 years Lighter than normal Light Blond Light brown Positive Positive Positive
15 M 5 years Creamy white Light Blond Blue-gray Positive Positive Positive
16 F 11 months Creamy white Light Blond Blue-gray Positive Positive Unknown
17 M 2 months Creamy white Light Blond Blue-gray Unknown Unknown Unknown
18 F 32 years Lighter than normal Blond Brown Positive Positive Positive