autosomal recessive nonsyndromic deafness 102

Term ID

DOID:0110463

Synonyms

• autosomal recessive deafness 102
• DFNB102

Definition

An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12. https://www.ncbi.nlm.nih.gov/pubmed/24741995

References

• ICD10CM:H90.3
• MIM:615974

Ontology

Human Disease   ( DOID:0110463 )