Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene.
Comprehensive, easy-to-understand information about this condition
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mitochondrial respiratory chain complex deficiency
MONDO:0000066
combined oxidative phosphorylation deficiency
MONDO:0000732
myopathy, lactic acidosis, and sideroblastic anemia
MONDO:0000863
optic atrophy 3
MONDO:0008133
autosomal dominant optic atrophy, classic form
MONDO:0008134
Leigh syndrome
MONDO:0009723