IllnessOkihiro syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Okihiro syndrome
ID
OS0010
Number of genes
1
Accredited laboratory test
Examined sequence length
3,2 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
SALL4 | 3162 | NM_020436.5 | AD |
Informations about the disease
Synonyms
- Alias: Acrorenoocular syndrome
- Alias: Duane anomaly with radial ray abnormalities + deafness
- Alias: Duane-radial ray syndrome
- SALL4-related disorder
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined