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GTR Home > Tests > Seckel syndrome: Full gene sequencing panel

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Risk Assessment

Clinical summary

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Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene. [from MONDO]

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Acanthosis nigricans
  • Acute pancreatitis
  • Diabetes mellitus
  • Severe short stature
  • Glycosuria
  • Congestive heart failure
  • Hypertensive disorder
  • Insulin resistance
  • Retinal detachment
  • Skin tags
  • Impaired glucose tolerance
  • Elevated circulating aspartate aminotransferase concentration
  • Elevated circulating alanine aminotransferase concentration
  • Abdominal aortic aneurysm
  • Hyperplasia of midface
  • Glucose intolerance
  • Ventricular hypertrophy
  • Hypertriglyceridemia
  • Slender long bone
  • Microretrognathia
  • Metaphyseal widening
  • Cone-shaped epiphysis
  • Hepatic steatosis
  • Elevated circulating follicle stimulating hormone level
  • Elevated circulating luteinizing hormone level
  • Elevated hemoglobin A1c
  • Microcephaly
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Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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