IRF2BPL - Gene browser

IRF2BPL

interferon regulatory factor 2 binding protein like

HCNC Approved Symbol: IRF2BPL (HGNC:14282)
Genomic Coordinates: 14:77,024,543 - 77,028,708 (14q24.3)
Synonyms: EAP1, KIAA1865, C14orf4
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the IRF2BPL gene.

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

010
Patient count

Abnormality of the teeth: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Developmental delay: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Swallowing difficulties: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Neurodevelopmental regression: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Behavioural/psychiatric abnormality: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)