Combined oxidative phosphorylation defect type 13

Orpha code: 319514OMIM code: 614932

Definicja

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
Klasyfikacja

Disease

Synonimy
COXPD13
COXPD13
Kod ORPHA
319514
Kod OMIM
614932
Kod ICD10
E88.8
Kod ICD11
-

No additional description.

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