Deutsch
IllnessMowat-Wilson syndrome; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Mowat-Wilson syndrome comprising altogether 8 curated genes according to the clinical signs
ID
MP4447
Number of loci
| Loci type | Count |
|---|---|
| Gen | 8 |
Examined sequence length
3,7 kb (Core-/Core-canditate-Genes)
35,1 kb (Extended panel: incl. additional genes)
35,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci panel
Informations about the disease
Clinical Comment
illness_ClinicalComment_MP4447
Synonyms
- Alias: Hirschsprung disease – intellectual disability syndrome
- Allelic: Colorectal cancer, somatic (EP300)
- Allelic: Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
- Allelic: Hypogonadotropic hypogonadism 5 with(-out anosmia (CHD7)
- Angelman syndrome (UB3A)
- CHARGE syndrome (CHD7)
- Goldberg-Shprintzen megacolon syndrome (KIFBP)
- Menke-Hennekam syndrome 1 (CREBBP)
- Menke-Hennekam syndrome 2 (EP300)
- Microcephaly, mental retardation, distinct face +/- Hirschsprung disease (ZEB2)
- Mowat-Wilson syndrome (ZEB2)
- Pitt-Hopkins syndrome (TCF4)
- Rubinstein-Taybi syndrome 1 (CREBBP)
- Rubinstein-Taybi syndrome 2 (EP300)
- Smith-Lemli-Opitz syndrome (DHCR7)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined