C2CD3 - Gene browser | 3billion

C2CD3

C2CD3

C2 domain containing 3 centriole elongation regulator

HCNC Approved Symbol: C2CD3 (HGNC:24564)
Genomic Coordinates: 11:74,012,718 - 74,171,002 (11q13.4)
Synonyms: DKFZP586P0123
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the C2CD3 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Craniosynostosis: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Pachygyria: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

C2CD3 - Gene browser | 3billion