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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Oculocutaneous Albinism (OCA2, OCA2) Yellowish white hair, Blue Iris Autosomal Recessive 15q12-q13.1 Substitution OCA2 1456G>T Asp486Tyr Missense 0/Jaworek et al., 2012
Oculocutaneous Albinism (OCA2, OCA2) White Hair, White Skin, Blue Iris Autosomal Recessive 15q12-q13.1 Substitution OCA2 1580T>G Leu527Arg Missense 0/Jaworek et al., 2012
Oculocutaneous Albinism (OCA2, OCA2) Brown Hair, White Skin Autosomal Recessive 15q12-q13.1 Substitution OCA2 2228C>T Pro743Leu Missense 0/Jaworek et al., 2012
Oculocutaneous Albinism (OCA2, OCA2) Fair Skin, Brown Hair Autosomal Recessive 15q12-q13.1 Substitution OCA2 2359G>A Ala787Thr Missense 0/Jaworek et al., 2012