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References OMIM Gene GeneReviews HGMD HGNC
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Symbol TCOH
Location 3q23
Name tubulopathy, cardiomyopathy, skin oedema, hypotonia
Corresponding gene MRPS22
Main clinical features
  • generalized oedema of the neck, labia, palms and feet, ascite, severe muscle hypotonia, hypertrophic cardiomyopathy, and tubulopathy, with early death . enzymatic activities of multiple mitochondrial respiratory chain complexes were reduced in muscle
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease