autosomal recessive nonsyndromic deafness 28

Term ID

DOID:0110486

Synonyms

• autosomal recessive deafness 28
• DFNB28

Definition

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 TRIOBP gene on chromosome 22q13. https://www.ncbi.nlm.nih.gov/pubmed/16385458

References

• ICD10CM:H90.3
• OMIM:609823

Ontology

Human Disease   ( DOID:0110486 )