Deafness, Autosomal Recessive 100 (DFNB100)

Alias:

Dfnb100

Autosomal Recessive Nonsyndromic Deafness 100

Hearing Loss, Autosomal Recessive 100

Deafness, Autosomal Recessive, 100

Autosomal Recessive Deafness 100

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Recessive 100, also known as dfnb100, is related to usher syndrome, type iid and deafness, autosomal recessive 23. An important gene associated with Deafness, Autosomal Recessive 100 is PPIP5K2 (Diphosphoinositol Pentakisphosphate Kinase 2). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and abnormal vestibular function

Related ID：

MALACARDS：DFN374

OMIM：618422

MESH：D006319