ACO2 - Gene browser

ACO2

aconitase 2

HCNC Approved Symbol: ACO2 (HGNC:118)
Genomic Coordinates: 22:41,469,117 - 41,528,974 (22q13.2)
Synonyms: ACONM
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the ACO2 gene.

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

010
Patient count

Global developmental delay: 4 (40.0%)
Patient Count: 4 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (40.0%)
Ataxia: 4 (40.0%)
Patient Count: 4 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (40.0%)
Delayed gross motor development: 4 (40.0%)
Patient Count: 4 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (40.0%)
Intellectual disability: 4 (40.0%)
Patient Count: 4 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (40.0%)
Optic atrophy: 4 (40.0%)
Patient Count: 4 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (40.0%)