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Results 1 - 3 of 3 for Abnormal iris pigmentation
  1. Waardenburg syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/waardenburg-syndrome - Genetics
  2. SOX10 gene 
    ... a pigment that contributes to skin, hair, and eye color. Melanin is also involved in the normal function ... gene variants lead to the production of an abnormal version of the SOX10 protein or prevent the ...
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  3. Neurofibromatosis type 1 
    ... head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine (scoliosis). Although most people ...
    https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1 - Genetics