IllnessMicrocephaly + hydranencephaly, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Microcephaly + hydranencephaly comprising 3 guideline-curated and another curated gene
ID
MP1232
Number of genes
3
Accredited laboratory test
Examined sequence length
2,6 kb (Core-/Core-canditate-Genes)
8,5 kb (Extended panel: incl. additional genes)
8,5 kb (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
Almost or complete lack of cortex, specifically cerebral hemispheres, with cranium + meninges completely intact. Mostly, death in utero or first weeks; developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness, blindness typical
Synonyms
- Allelic: Epileptic encephalopathy, early infantile, 1 (ARX)
- Allelic: Lissencephaly 4 [with microcephaly] (NDE1)
- Allelic: Lissencephaly, XL 2 (ARX)
- Allelic: Mental retardation, XL 29 + others (ARX)
- Allelic: Partington syndrome (ARX)
- Allelic: Proud syndrome (ARX)
- Cerebellar ataxia, mental retardation + dysequilibrium syndrome 2 (WDR81)
- Hydranencephaly with abnormal genitalia (ARX)
- Hydrocephalus, congenital, 3, with brain anomalies (WDR81)
- Microhydranencephaly (NDE1)
- Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (FLVCR2)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q02
Bioinformatics and clinical interpretation
No text defined