FBXL4 - Gene browser

FBXL4

F-box and leucine rich repeat protein 4

HCNC Approved Symbol: FBXL4 (HGNC:13601)
Genomic Coordinates: 6:98,868,535 - 98,947,946 (6q16.1-q16.2)
Synonyms: FBL4, FBL5
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the FBXL4 gene.

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

06
Patient count

Intellectual disability: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Abnormal corpus callosum morphology: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Bluish sclerae: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Broad forehead: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Congenital lactic acidosis: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)