autosomal dominant nonsyndromic deafness 78

Term ID

DOID:0112159

Synonyms

• DFNA78

Definition

An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. https://pubmed.ncbi.nlm.nih.gov/32294086/

References

• OMIM:619081

Ontology

Human Disease   ( DOID:0112159 )