Combined oxidative phosphorylation defect type 14

Orpha code: 319519OMIM code: 614946

Definition

Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.

Disease data
Classification

Disease

Synonyms
COXPD14
COXPD14
ORPHA code
319519
OMIM code
614946
ICD10 code
E88.8
ICD11 code
-

No additional description.

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