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GTR Home > Tests > RenalZoom

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from OMIM

Alpha-aminoadipic and alpha ketoadipic aciduria (AAKAD) is an inborn error of lysine, tryptophan, and hydroxylysine metabolism, which is manifested by the accumulation and excretion of 2-aminoadipic, 2-ketoadipic, and 2-hydroxyadipic acids.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Hypotonia
  • Delayed speech and language development
  • Global developmental delay
  • Attention deficit hyperactivity disorder
  • Alpha-aminoadipic aciduria
  • Mild global developmental delay
  • Microcephaly
  • 2-hydroxyadipic aciduria
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Conditions tested

Target population

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Individuals with a phenotype consistent with hereditary renal disorder

Clinical validity

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Not provided

Clinical utility

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Not provided

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