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CEP164

centrosomal protein 164

HCNC Approved Symbol
CEP164 (HGNC:29182)
Genomic Coordinates
11:117,321,778 - 117,413,266 (11q23.3)
Synonyms
KIAA1052, NPHP15
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 CEP164 gene.

Frequently observed phenotypes

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

Abnormal retinal morphology
 1 (50.0%)
Ird
 1 (50.0%)
Retinal disease
 1 (50.0%)
Visual impairment
 1 (50.0%)
Abnormal mouth floor morphology
 1 (50.0%)
CEP164 - Gene browser | 3billion