Deutsch
IllnessMarinesco-Sjögren syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Marinesco-Sjögren syndrome comprising altogether 6 curated genes according to the clinical signs
ID
MP2938
Number of loci
| Locus type | Count |
|---|---|
| Gen | 6 |
Examined sequence length
1,4 kb (Core-/Core-canditate-Genes)
11,3 kb (Extended panel: incl. additional genes)
11,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci
Informations about the disease
Synonyms
- Allelic: Dementia, familial British (ITM2B)
- Allelic: Dementia, familial Danish (ITM2B)
- Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
- Congenital cataracts, facial dysmorphism + neuropathy (CTDP1)
- Marinesco-Sjogren syndrome (SIL1)
- Muscular dystrophy, congenital, with cataracts + intellectual disability (INPP5K)
- Retinal dystrophy with inner retinal dysfunction + ganglion cell abnormalities (ITM2B)
- Spastic paraplegia 46, AR (GBA2)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined