Deafness, Autosomal Recessive 76 (DFNB76)

Alias:

Dfnb76

Autosomal Recessive Nonsyndromic Deafness 76

Autosomal Recessive Nonsyndromic Hearing Loss 76

Deafness, Autosomal Recessive, Type 76

Deafness, Autosomal Recessive, 76

Autosomal Recessive Deafness 76

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Recessive 76, also known as dfnb76, is related to emery-dreifuss muscular dystrophy 3, autosomal recessive and emery-dreifuss muscular dystrophy. An important gene associated with Deafness, Autosomal Recessive 76 is SYNE4 (Spectrin Repeat Containing Nuclear Envelope Family Member 4), and among its related pathways/superpathways is Envelope proteins and their potential roles in EDMD physiopathology. Affiliated tissues include brain, and related phenotypes are progressive sensorineural hearing impairment and nervous system

Related ID：

MALACARDS：DFN265

OMIM：615540

MESH：D006316