autosomal recessive nonsyndromic deafness 109

Term ID

DOID:0111639

Synonyms

• autosomal recessive deafness 109
• DFNB109

Definition

An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. https://www.ncbi.nlm.nih.gov/pubmed/29107558

References

• OMIM:618013

Ontology

Human Disease   ( DOID:0111639 )