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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 X2 (DFNX2, POU3F4) Prelingual hearing impairment X-Linked Xq21.1 Nonsense POU3F4 341G>A Trp114* Premature Termination 0/Waryah et al., 2011
Hearing Impairment X2 (DFNX2, POU3F4) Prelingual hearing impairment X-Linked Xq21.1 Nonsense POU3F4 406C>T Gln136* Premature Termination 0/Waryah et al., 2011