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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
DEAFNESS AND MYOPIA (SLITRK6) sensorineural deafness and high myopia Autosomal recessive 13q31.1 Nonsense Mutation SLITRK6 c.120_121insT p.(Asp41*) - Julia Doll et., al 2020/2020