autosomal recessive nonsyndromic deafness 120

Term ID

DOID:0070674

Synonyms

• DFNB120

Definition

An autosomal recessive nonsyndromic deafness characterized by congenital or prelingual onset of severe to profound sensorineural hearing loss that has_material_basis_in homozygous mutation in the MINAR2 gene on chromosome 5q23. https://pmc.ncbi.nlm.nih.gov/articles/PMC9245706/

References

• MIM:620238

Ontology

Human Disease   ( DOID:0070674 )