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UBE3B

ubiquitin protein ligase E3B

HCNC Approved Symbol
UBE3B (HGNC:13478)
Genomic Coordinates
12:109,477,634 - 109,547,829 (12q24.11)
Synonyms
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the UBE3B gene.

Frequently observed phenotypes

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

Failure to thrive
 5 (71.4%)
Hypotonia
 5 (71.4%)
Feeding difficulties
 3 (42.9%)
Global developmental delay
 3 (42.9%)
Laryngomalacia
 3 (42.9%)
UBE3B - Gene browser | 3billion