Deutsch
IllnessMentale Retardierung mit Hyperphosphatasie, Differentialdiagnose
Summary
Short information
A differential diagnostic panel for Mental retardation with hyperphosphateasia, differential diagnosis, comprising altogether 7 curated genes
ID
HP7865
Number of loci
| Loci type | Count |
|---|---|
| Gen | 6 |
Examined sequence length
6,5 kb (Core-/Core-canditate-Genes)
8,3 kb (Extended panel: incl. additional genes)
8,3 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_HP7865
Synonyms
- CHIME [Coloboma, cong. Heart defects, migratory Ichthyosiform dermatosis, MR, Ear anom.] s. (PIGL)
- Glycosylphosphatidylinositol biosynthesis defect 11 (PIGW)
- Hyperphosphatasia with mental retardation syndrome 1 (PIGV)
- Hyperphosphatasia with mental retardation syndrome 2 (PIGO)
- Hyperphosphatasia with mental retardation syndrome 3 (PGAP2)
- Hyperphosphatasia with mental retardation syndrome 4 (PGAP3)
- Hyperphosphatasia with mental retardation syndrome 5 (PIGW)
- Hyperphosphatasia with mental retardation syndrome 6 (PIGY)
- Zunich neuroectodermal syndrome (PIGL)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined