Deutsch
IllnessCEBALID syndrome, MCTT syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion CEBALID syndrome, MCTT syndrome
ID
CS9912
Number of genes
1
Accredited laboratory test
Examined sequence length
4,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| MN1 | 3963 | NM_002430.3 | AD |
Informations about the disease
Synonyms
- Alias: MN1 C-terminal truncation [MCTT] syndrome (MN1)
- CEBALID: Craniofacial def.-dysmorph. Ears-Brain Abnorm.-expressive Language delay-ID (MN1)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined