Deafness, Autosomal Dominant 70 (DFNA70)

Alias:

Dfna70

Autosomal Dominant Nonsyndromic Deafness 70

Autosomal Dominant Nonsyndromic Hearing Loss 70

Deafness, Autosomal Dominant, 70

Autosomal Dominant Deafness 70

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Dominant 70, also known as dfna70, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and autosomal dominant nonsyndromic deafness. An important gene associated with Deafness, Autosomal Dominant 70 is MCM2 (Minichromosome Maintenance Complex Component 2). Affiliated tissues include brain, and related phenotypes are progressive sensorineural hearing impairment and abnormal vestibular function

Related ID：

MALACARDS：DFN327

OMIM：616968

MESH：D006319