OnlineIMD
Costeff syndrome
Synonym(s)
OPA3 deficiency
,
3-methylglutaconic aciduria type 3
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
OPA3
/ OPA3, Mitochondrial Dynamin Like GTPase
19q13.32
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Mitochondrial dynamin-like GTPase
Disease group(s)
19.2 Disorders of mitochondrial and peroxisomal dynamics
Child entries
Optic atrophy type 3