EXOSC9 - Gene browser | 3billion

EXOSC9

EXOSC9

exosome component 9

HCNC Approved Symbol: EXOSC9 (HGNC:9137)
Genomic Coordinates: 4:121,801,323 - 121,817,021 (4q27)
Synonyms: PM/Scl-75, Rrp45p, RRP45, p5, p6, PMSCL1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the EXOSC9 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Global development delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypotonia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

EXOSC9 - Gene browser | 3billion