X-linked deafness 7

Term ID

DOID:0111738

Synonyms

• DFNX7
• X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome

Definition

An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1. https://www.ncbi.nlm.nih.gov/pubmed/28096187

References

• OMIM:301018
• ORDO:500188

Ontology

Human Disease   ( DOID:0111738 )