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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessDuane[-radial ray] syndrome, differential diagnosis

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Summary

Short information

A comprehensive panel for Duane[-radial ray] syndrome, differential diagnosis containing 3 curated core candidate genes and altogether 10 curated genes accord8ing to the clinically suspected diagnosis

ID
DP8642
Number of genes
0 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

No genes linked

Informations about the disease

Clinical Comment

illness

 

Synonyms
  • Alias: Duane anomaly, isolated
  • Alias: Duane retraction syndrome
  • Alias: Radiales Fehlbildungssyndrom mit Duane-Retraktionssyndrom
  • Alias: Stilling-Turk-Duane syndrome
  • Allelic: Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
  • Okihiro [Duane-radial ray] syndrome (SALL4)
  • Allelic: Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Athabaskan brainstem dysgenesis syndrome (HOXA1)
  • Bosley-Salih-Alorainy syndrome (HOXA1)
  • Duane retraction syndrome 2 (CHN1)
  • Duane-radial ray syndrome 1 (SALL4)
  • Fibrosis of extraocular muscles, congenital, 1 (KIF21A)
  • Fibrosis of extraocular muscles, congenital, 2 (PHOIX2A)
  • Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Fibrosis of extraocular muscles, congenital, 3B (KIF21A)
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1 (ROBO3)
  • IVIC syndrome (SALL4)
  • Townes-Brocks branchiootorenal-like syndrome (SALL1)
  • Townes-Brocks syndrome 1 (SALL1)
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined