Deafness, Autosomal Recessive 48 (DFNB48)

Alias:

Dfnb48

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 48

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 48

Autosomal Recessive Nonsyndromic Hearing Loss 48

Autosomal Recessive Nonsyndromic Deafness 48

Deafness, Autosomal Recessive, Type 48

Deafness, Autosomal Recessive, 48

Autosomal Recessive Deafness 48

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Recessive 48, also known as dfnb48, is related to usher syndrome, type ij and usher syndrome. An important gene associated with Deafness, Autosomal Recessive 48 is CIB2 (Calcium And Integrin Binding Family Member 2). Affiliated tissues include brain, and related phenotypes are profound sensorineural hearing impairment and abnormal vestibular function

Related ID：

MALACARDS：DFN258

OMIM：609439

MESH：D006319