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PLCB4

phospholipase C beta 4

HCNC Approved Symbol
PLCB4 (HGNC:9059)
Genomic Coordinates
20:9,068,678 - 9,480,808 (20p12.3-p12.2)
Synonyms
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the PLCB4 gene.

Frequently observed phenotypes

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

Pierre-robin sequence
 2 (66.7%)
Ear anomalies
 1 (33.3%)
Abnormal facial shape
 1 (33.3%)
Broad nasal bridge
 1 (33.3%)
Cardiomyopathy
 1 (33.3%)
PLCB4 - Gene browser | 3billion