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Human Disease

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
Ontology
Human Disease   ( DOID:0111738 )
Relationships
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Genes Involved
Zebrafish Models