Combined oxidative phosphorylation defect type 13

Orpha code: 319514OMIM code: 614932

Definition

Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.

Disease data
Classification

Disease

Synonyms
COXPD13
COXPD13
ORPHA code
319514
OMIM code
614932
ICD10 code
E88.8
ICD11 code
-

No additional description.

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