Combined Oxidative Phosphorylation Deficiency 32; Coxpd32

Description

Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (OMIM ). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Deficiency 32; Coxpd32

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Strabismus
  • Spasticity
  • Ptosis
  • Flexion contracture
  • Feeding difficulties
  • Hyperreflexia

And another 19 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Combined Oxidative Phosphorylation Deficiency 32; Coxpd32 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MRPS34.

By Fulgent Genetics Fulgent Genetics (United States).

MRPS34
Specificity
100 %
Genes
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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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