Combined Oxidative Phosphorylation Deficiency 31; Coxpd31

Description

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Clinical Features

Top most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Deficiency 31; Coxpd31

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Micrognathia
  • Failure to thrive
  • Cataract
  • Myopathy
  • Depressed nasal bridge
  • Feeding difficulties
And another 16 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Combined Oxidative Phosphorylation Deficiency 31; Coxpd31 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MIPEP.

By Fulgent Genetics Fulgent Genetics in United States.

MIPEP
Specificity
100 %
Genes
100 %


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