Deutsch
IllnessMicrocephaly, short stature, polymicrogyria with / without seizures
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion polymicrogyria with seizures
ID
PS0670
Number of genes
1
Accredited laboratory test
Examined sequence length
6,7 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 |
|---|---|---|---|---|
| RTTN | 6681 | NM_173630.4 | AR |
Informations about the disease
Clinical Comment
Microcephalic primordial dwarfism due to RTTN deficiency is multiple congenital anomalies/dysmorphic syndrome with primary microcephaly, profound short stature, moderate/severe intellectual disability, global developmental delay, craniofacial dysmorphism (sloping forehead, high + broad nasal bridge), variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum + deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive, sacral lesion cephalad to the gluteal crease
Synonyms
- Alias: Microcephalic primordial dwarfism due to RTTN deficiency (RTTN)
- Alias: Microcephaly, short stature, polymicrogyria with/-out seizures (RTTN)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Q04.3
Bioinformatics and clinical interpretation
No text defined