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CIC

capicua transcriptional repressor

HCNC Approved Symbol
CIC (HGNC:14214)
Genomic Coordinates
19:42,268,530 - 42,295,796 (19q13.2)
Synonyms
KIAA0306
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the CIC gene.

Frequently observed phenotypes

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

Abnormality of connective tissue
 1 (50.0%)
Gross motor delay
 1 (50.0%)
Jerking head movements
 1 (50.0%)
Joint laxity
 1 (50.0%)
Pes planus
 1 (50.0%)
CIC - Gene browser | 3billion