GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation defect type 15

Summary

A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with 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. Caused by homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22. [from SNOMEDCT_US]

Available tests

30 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: COXPD15, FMT1, MC1DN27, MTFMT
    Summary: mitochondrial methionyl-tRNA formyltransferase

Clinical features

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