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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 (OCA4, SLC45A2) Pinkish white Skin, Brown Hair, Grey Iris Autosomal Recessive 5p13.2 Substitution SLC45A2 251T>C Leu84Pro Missense 0/Kausar et al., 2013
Oculocutaneous Albinism (OCA4, SLC45A2) White Hair, Pinkish White Skin, Grey/Brown Iris Autosomal Recessive 5p13.2 Substitution SLC45A2 1532C>T Ala511Val Missense 0/Kausar et al., 2013
Oculocutaneous Albinism (OCA4, SLC45A2) Brown Hair, White Skin, Grey Iris Autosomal Recessive 5p13.2 Substitution SLC45A2 889-6T>G - Splicing Error 0/Kausar et al., 2013