ADCY5 - Gene browser

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.

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

05
Patient count

Global developmental delay: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Hypokinesia: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Limb myoclonus: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Paroxysmal dystonia: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Delayed puberty: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)