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GTR Home > Tests > Brachydactyly / syndactyly panel. NGS panel of 20 genes.

Indication

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

Clinical summary

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Imported from OMIM

Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by Su et al., 2011).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Hallux valgus
  • Aplasia/Hypoplasia of the middle phalanx of the 5th finger
  • Short middle phalanx of the 5th finger
  • Radial deviation of the 2nd finger
  • Ulnar deviation of the 2nd finger
  • Clinodactyly of the 5th finger
  • Short 2nd finger
  • Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
  • Medially deviated second toe
  • Short hallux
  • Broad hallux
  • Triangular shaped middle phalanx of the 2nd finger
  • Triangular shaped middle phalanx of the 5th finger
  • 2-3 toe syndactyly
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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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