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CEP120

centrosomal protein 120

HCNC Approved Symbol
CEP120 (HGNC:26690)
Genomic Coordinates
5:123,344,892 - 123,423,842 (5q23.2)
Synonyms
FLJ36090, CCDC100
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the CEP120 gene.

Frequently observed phenotypes

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

Abnormal gait
 2 (100.0%)
Astigmatism
 2 (100.0%)
Atrial septal defect
 2 (100.0%)
Hip subluxation
 2 (100.0%)
Hypotonia
 2 (100.0%)
CEP120 - Gene browser | 3billion