OPA3 - Gene browser

OPA3

outer mitochondrial membrane lipid metabolism regulator OPA3

HCNC Approved Symbol: OPA3 (HGNC:8142)
Genomic Coordinates: 19:45,527,427 - 45,584,802 (19q13.32)
Synonyms: FLJ22187, MGA3
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the OPA3 gene.

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

01
Patient count

Generalized hypotonia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Global developmental delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypoplasia of the corpus callosum: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Nystagmus: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Pectus excavatum: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)