Deutsch
IllnessPolymicrogyria, asymmetric
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion assymmetric polymicrogyria
ID
PS0671
Number of genes
1
Accredited laboratory test
Examined sequence length
1,4 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 | Heredity |
|---|---|---|---|
| TUBB2B | 1338 | AD |
Informations about the disease
Clinical Comment
Generalized or focal polmicrogryia-like cortical dysplasia, simplified gyral pattern, or microlissencephaly/agenesis of corpus callosum. Microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, ocular abnormalities (strabismus, ptosis, optic atrophy)
Synonyms
- Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
- Polymicrogyria due to TUBB2B mutation
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
Q04.3
Bioinformatics and clinical interpretation
No text defined