X-linked deafness 7

info · Genetic

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.

Signs and symptoms

Hearing impairment
Telecanthus
Atresia of the external auditory canal
Thick eyebrow
Wide nasal bridge
Ptosis
Stenosis of the external auditory canal
Unilateral microphthalmos
Posteriorly rotated ears
Global developmental delay

Also known as: DFNX7; X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome