Features include always present findings: Long philtrum, Brachydactyly, Short stature, and Broad columella and others; and common findings: Upslanted palpebral fissure, Hearing loss (hearing impairment), Mild intellectual disability, and Nyctalopia and others. 41 total HPO annotations.

EXOSC2 encodes exosome component 2 (293 aa). Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. Highest expression in Cells EBV-transformed lymphocytes (30.9 TPM) and Cells Cultured fibroblasts (25.4 TPM).

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome is associated with mutations in the EXOSC2 gene on chromosome 9.

EXOSC2 is classified as a druggable target with score 0.0.

Genetic testing for EXOSC2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 12 always present features, 27 common features.

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

No clinical trials have been registered for retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome.

101 publications have been identified in PubMed for retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome. Kisho has analyzed 77 by research type. Research spans Review / Meta-Analysis (31%), Basic Science / Preclinical (26%), and Epidemiology / Natural History (17%).