MedGen

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22. [from MONDO]

Autosomal recessive deafness-49 (DFNB49) is characterized by prelingual profound sensorineural hearing loss at all frequencies (Riazuddin et al., 2006 and Chishti et al., 2008). [from OMIM]

An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor. It is characterized by profound deafness. [from NCI]

This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset (summary by Charizopoulou et al., 2011). [from OMIM]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene. [from MONDO]

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2. [from MONDO]

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44. [from MONDO]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene. [from MONDO]

Usher syndrome type 1M (USH1M) is characterized by prelingual sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa (Ahmed et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of Usher syndrome, see USH1 (276900). [from OMIM]

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2. [from MONDO]

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23. [from MONDO]

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1. [from MONDO]

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27. [from MONDO]

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3. [from MONDO]

A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. [from HPO]