Deutsch
IllnessStüve-Wiedemann syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Stüve-Wiedemann syndrome
ID
SS0890
Number of genes
1
Accredited laboratory test
Examined sequence length
3,3 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 +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| LIFR | 3294 | NM_002310.6 | AR |
Informations about the disease
Clinical Comment
Congenital primary skeletal dysplasia, small stature, bowing of long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes, feeding difficulties, usually early mortality
Synonyms
- Sympt.: Bowed long bones, skeletal anomalies, episodic hyperthermia, respiratory + feeding distress
- Alias: Neonatal Schwartz-Jampel syndrome (LIFR)
- Alias: Schwartz-Jampel-Syndrom 2 (LIFR)
- Alias: Stüve-Wiedemann dysplasia (LIFR)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined