Deutsch
IllnessMicrocephaly + lissencephaly + cerebellar hypoplasia
Summary
Short information
Comprehensive differential diagnostic panel for Microcephaly with lissencephaly + cerebellar hypoplasia comprising 7 guideline-curated genes
ID
MP1239
Number of genes
7
Accredited laboratory test
Examined sequence length
18,9 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
Informations about the disease
Clinical Comment
Form of lissencephaly, heterogeneous group of cortical malformations without severe congenital microcephaly, cerebellar underdevelopment from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly; phenotypic features: small head circumference (birth, postnatally), moderate to severe intellectual disability, hypotonia, spasticity. Seizures often, infantile spasms in rare cases. 6 subgroups according to neuroradiographic properties
Synonyms
- Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
- Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
- Allelic: Microhydranencephaly (NDE1)
- Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (VLDLR)
- Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
- Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
- Lissencephaly 2, Norman-Roberts type (RELN)
- Lissencephaly 3 (TUBA1A)
- Lissencephaly 4, with microcephaly (NDE1)
- Lissencephaly 7 with cerebellar hypoplasia (CDK5)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q02
Bioinformatics and clinical interpretation
No text defined