3billion
back to listBack to List

COX20

cytochrome c oxidase assembly factor COX20

HCNC Approved Symbol
COX20 (HGNC:26970)
Genomic Coordinates
1:244,835,306 - 244,845,063 (1q44)
Synonyms
FLJ43269, FAM36A
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 COX20 gene.

Frequently observed phenotypes

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

Ataxia
 2 (100.0%)
Failure to thrive
 2 (100.0%)
Global developmental delay
 2 (100.0%)
High arched palate
 2 (100.0%)
Truncal hypotonia
 2 (100.0%)
COX20 - Gene browser | 3billion