Combined oxidative phosphorylation defect type 25

Orpha code: 447954OMIM code: 616430

Definicja

Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.

Disease data
Klasyfikacja

Disease

Synonimy
COXPD25
COXPD25
Kod ORPHA
447954
Kod OMIM
616430
Kod ICD10
E88.8
Kod ICD11
-

No additional description.

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