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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
Hearing Impairment DFNB2 (MYO7A) Hearing loss or deafness/usher syndrome symptoms Autosomal recessive 11q13.5 Missense Mutation MYO7A c.476G>A Ser1168Asn Amino acid substitution Julia Doll et., al 2020/2020