autosomal recessive nonsyndromic deafness 84A

Term ID

DOID:0110529

Synonyms

• autosomal recessive deafness 84A
• autosomal recessive deafness 84A with vestibular dysfunction
• DFNB84A

Definition

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. https://www.ncbi.nlm.nih.gov/pubmed/20346435

References

• ICD10CM:H90.3
• MIM:613391

Ontology

Human Disease   ( DOID:0110529 )