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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