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EXOSC2

exosome component 2

HCNC Approved Symbol
EXOSC2 (HGNC:17097)
Genomic Coordinates
9:130,693,760 - 130,704,894 (9q34.12)
Synonyms
hRrp4p, Rrp4p, RRP4, p7
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
617763AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the EXOSC2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results