autosomal recessive nonsyndromic deafness 67

Term ID

DOID:0110518

Synonyms

• autosomal recessive deafness 67
• DFNB67

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 LHFPL5 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/16459341

References

• ICD10CM:H90.3
• OMIM:610265

Ontology

Human Disease   ( DOID:0110518 )