3billion
back to listBack to List

ADCY5

adenylate cyclase 5

HCNC Approved Symbol
ADCY5 (HGNC:236)
Genomic Coordinates
3:123,282,296 - 123,449,090 (3q21.1)
Synonyms
AC5
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the ADCY5 gene.

Frequently observed phenotypes

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

Global developmental delay
 2 (40.0%)
Hypokinesia
 1 (20.0%)
Limb myoclonus
 1 (20.0%)
Paroxysmal dystonia
 1 (20.0%)
Delayed puberty
 1 (20.0%)
ADCY5 - Gene browser | 3billion