autosomal dominant nonsyndromic deafness 80

Term ID

DOID:0070602

Synonyms

• autosomal dominant deafness 80
• DFNA80

Definition

An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11. (2)

References

• MIM:619274

Ontology

Human Disease   ( DOID:0070602 )