/autosomal recessive nonsyndromic hearing loss 28

autosomal recessive nonsyndromic hearing loss 28

Rare Disease

MONDO:0012355

Also Known As

autosomal recessive nonsyndromic hearing loss 28DFNB28TRIOBP autosomal recessive nonsyndromic deafnessautosomal recessive deafness 28autosomal recessive nonsyndromic deafness 28autosomal recessive nonsyndromic deafness caused by mutation in TRIOBPautosomal recessive nonsyndromic deafness type 28deafness, autosomal recessive 28deafness, autosomal recessive type 28

Definition

An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.