UBE4A

UBE4A

ubiquitination factor E4A

HCNC Approved Symbol: UBE4A (HGNC:12499)
Genomic Coordinates: 11:118,359,600 - 118,399,211 (11q23.3)
Synonyms: UBOX2, UFD2, KIAA0126, E4
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the UBE4A gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Intellectual disability: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Muscle hypotonia: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)

Last updated: 2024-06-30