MedGen

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

A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. [from NCI]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene. [from MONDO]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene. [from MONDO]

Nonsyndromic hearing loss and deafness (DFNB1) is characterized by congenital non-progressive mild-to-profound sensorineural hearing impairment. No other associated medical findings are present. [from GeneReviews]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene. [from MONDO]

An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31. [from MONDO]

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

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene. [from MONDO]

Autosomal recessive deafness-3 (DFNB3) is a congenital, profound, neurosensory deafness. There are no apparent vestibular abnormalities or dysmorphic features (Friedman et al., 1995). [from OMIM]

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

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene. [from MONDO]

A decreased magnitude of the sensory perception of sound. [from HPO]

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. [from HPO]

A non-neoplastic or neoplastic disorder that affects the ear. Representative examples include infections, hearing disorders, benign neoplasms, and carcinomas. [from NCI]

The magnitude of INBREEDING in humans. [from MeSH]