EVC2 - Gene browser

EVC2

EvC ciliary complex subunit 2

HCNC Approved Symbol: EVC2 (HGNC:19747)
Genomic Coordinates: 4:5,529,011 - 5,709,548 (4p16.2)
Synonyms: LBN
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the EVC2 gene.

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

08
Patient count

Brachydactyly: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Multiple oral frenula: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Postaxial hand polydactyly: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Abnormal heart morphology: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Limb undergrowth: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)