combined oxidative phosphorylation defect type 15
Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
COXPD15
exact
MTFMT combined oxidative phosphorylation deficiency
exact
combined oxidative phosphorylation defect type 15
exact
combined oxidative phosphorylation deficiency 15
related
combined oxidative phosphorylation deficiency caused by mutation in MTFMT
exact
combined oxidative phosphorylation deficiency type 15
exact
SPAC1805.09c