OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexia.
X
X
Ayrignac
C
C
Liauzun
G
G
Lenaers
D
D
Renard
P
P
Amati-Bonneau
J
J
de Sèze
H
H
Dollfus
C
C
Hamel
D
D
Bonneau
P
P
Labauge
D000328:Adult; D001259:Ataxia / Q000150:complications / Q000235:genetics*; D002386:Cataract / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D029241:Optic Atrophy, Autosomal Dominant / Q000150:complications / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012021:Reflex, Abnormal / Q000235:genetics*
C443108:OPA3 protein, human; D011506:Proteins