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Abnormal iris pigmentation
- ... called melanin, which contributes to skin, hair, and eye color and plays an essential role in the normal function of the inner ear. Variants in any of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and ...
- ... head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine (scoliosis). Although most people ...