Features include always present findings: Hearing loss (hearing impairment), Telecanthus, and Atresia of the external auditory canal; and common findings: Thick eyebrow, Wide nasal bridge, Ptosis, and Stenosis of the external auditory canal. 11 total HPO annotations.

GPRASP2 encodes G protein-coupled receptor associated sorting protein 2 (838 aa). May play a role in regulation of a variety of G-protein coupled receptors Highest expression in Brain Cerebellar Hemisphere (56.4 TPM) and Ovary (52.1 TPM).

X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome is associated with mutations in the GPRASP2 gene on chromosome X.

GPRASP2 is classified as a druggable target with score 0.0.

Genetic testing for GPRASP2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).