USP9X - Gene browser

USP9X

ubiquitin specific peptidase 9 X-linked

HCNC Approved Symbol: USP9X (HGNC:12632)
Genomic Coordinates: 23:41,085,445 - 41,236,579 (Xp11.4)
Synonyms: DFFRX, FAF, FAF-X, MRX99
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

15Patients

In total, 15 patients were diagnosed with a variant in the USP9X gene.

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

015
Patient count

Global developmental delay: 4 (26.7%)
Patient Count: 4 (26.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (26.7%)
Abnormal facial shape: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)
Atrial septal defect: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)
Low set ears: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)
Ventricular septal defect: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)