©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessDuane[-radial ray]-Syndrom, Differentialdiagnose

Request form illness
Order shipping materials

Summary

Short information

DP8642_KI

ID
DP8642
Number of loci
Loci typeCount
Gen1
Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
1,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

DP8642_DH

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
TUBB31353NM_006086.4AD

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)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined