×

Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Woolly Hairs (KRT25) Tightly curled hair with abnormal growth Autosomal Recessive 17q21.2 Missense KRT25 950T>C Leu317Pro Amino Acid Substitution 0/Ansar M et.al.,,2015