autosomal recessive nonsyndromic deafness 116

Term ID

DOID:0112162

Synonyms

• DFNB116

Definition

An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. https://pubmed.ncbi.nlm.nih.gov/31175426/

References

• OMIM:619093

Ontology

Human Disease   ( DOID:0112162 )