Deafness, Autosomal Recessive 104 (DFNB104)

Alias:

Dfnb104

Autosomal Recessive Nonsyndromic Deafness 104

Autosomal Recessive Nonsyndromic Hearing Loss 104

Deafness, Autosomal Recessive, Type 104

Deafness, Autosomal Recessive, 104

Autosomal Recessive Deafness 104

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Recessive 104, also known as dfnb104, is related to deafness, autosomal recessive 79 and deafness, autosomal dominant 3a. An important gene associated with Deafness, Autosomal Recessive 104 is RIPOR2 (RHO Family Interacting Cell Polarization Regulator 2), and among its related pathways/superpathways are Signal Transduction and Signaling by Rho GTPases. Affiliated tissues include brain, and related phenotypes are prelingual sensorineural hearing impairment and absent brainstem auditory responses

Related ID：

MALACARDS：DFN283

OMIM：616515

MESH：D006319