Deafness, Autosomal Recessive 53 (DFNB53)

Alias:

Dfnb53

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 53

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 53

Autosomal Recessive Nonsyndromic Hearing Loss 53

Autosomal Recessive Nonsyndromic Deafness 53

Deafness, Autosomal Recessive, Type 53

Deafness, Autosomal Recessive, 53

Autosomal Recessive Deafness 53

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Recessive 53, also known as dfnb53, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and otospondylomegaepiphyseal dysplasia, autosomal dominant. An important gene associated with Deafness, Autosomal Recessive 53 is COL11A2 (Collagen Type XI Alpha 2 Chain). Affiliated tissues include brain, and related phenotype is sensorineural hearing impairment.

Related ID：

MALACARDS：DFN138

OMIM：609706

MESH：D006319