autosomal recessive nonsyndromic deafness 122

Term ID

DOID:0070669

Synonyms

• DFNB122

Definition

An autosomal recessive nonsyndromic deafness characterized by postnatal onset of sensorineural hearing loss, affecting high frequencies first and progressing to deficits in all frequencies, that results in deafness by the second or third decade and has_material_basis_in compound heterozygous mutation in the TMTC4 gene on chromosome 13q32. https://pmc.ncbi.nlm.nih.gov/articles/PMC10807715/

References

• MIM:620714

Ontology

Human Disease   ( DOID:0070669 )