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GTR Home > Tests > Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164, Autosomal dominant; DBA15 (Blackfan-Diamond anemia) (RPS28 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene. [from MONDO]

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Macrocytic anemia
  • Sensorineural hearing impairment
  • Micrognathia
  • Microtia
  • Mixed hearing impairment
  • Feeding difficulties
  • Congenital diaphragmatic hernia
  • Short stature
  • Stenosis of the external auditory canal
  • Downslanted palpebral fissures
  • Posteriorly rotated ears
  • Respiratory distress
  • Global developmental delay
  • Epicanthus
  • Sparse eyebrow
  • Midface retrusion
  • Broad neck
  • Low posterior hairline
  • Cleft palate
  • Bifid uvula
  • Granulocytopenia
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Conditions tested

Target population

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Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164, Autosomal dominant; DBA15 (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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