Deutsch
IllnessRett syndrome, congenital variant
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Rett syndrome, congenital variant
ID
RS2340
Number of genes
1
Accredited laboratory test
Examined sequence length
1,5 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 +
Sanger
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| FOXG1 | 1470 | NM_005249.5 | AD |
Informations about the disease
Clinical Comment
Short normal period of development before onset of regression leading to severe ID, DD, postnatal microcephaly, agenesis of the corpus callosum, seizures, dyskinesia + hypotonia
Synonyms
- Alias: FOXG1 syndrome
- Alias: Rett syndrome, congenital variant
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
F84.2
Bioinformatics and clinical interpretation
No text defined