COXPD27

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27

Patient C is 1 child with epileptic encephalopathy resulting in death at age 13 years [MISCELLANEOUS]

Three unrelated families have been reported (last curated March 2022) [MISCELLANEOUS]

Patient B is 1 child born of unrelated Scandinavian parents with a more severe phenotype with onset in the neonatal period [MISCELLANEOUS]

Family A has 2 sibs born of consanguineous Turkish parents with a milder phenotype with onset in childhood [MISCELLANEOUS]

Caused by mutation in the cysteinyl-tRNA synthetase 2 gene (CARS2, 612800.0001) [MOLECULAR BASIS]

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T047

13q34

Phenotype description, molecular basis known.

616672

C5567608

3

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