IllnessMikrozephalie mit Lissenzephalie, dünner Kortex
Summary
Short information
Comprehensive differential diagnostic panel for Microcephaly + lissencephaly (thin cortex) comprising 2 guideline-curated and another curated gene
ID
MP1222
Number of genes
2
Accredited laboratory test
Examined sequence length
10,4 kb (Core-/Core-canditate-Genes)
11,4 kb (Extended panel: incl. additional genes)
11,4 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
ORPHA452: X-linked lissencephaly with abnormal genitalia
ORPHA89844: Lissencephaly syndrome, Norman-Roberts type: lissencephaly type I with craniofacial anomalies (severe microcephaly, low sloping forehead, broad, prominent nasal bridge, widely set eyes), postnatal growth retardation
Synonyms
- Allelic: Epileptic encephalopathy, early infantile, 1 (ARX)
- Allelic: Hydranencephaly with abnormal genitalia (ARX)
- Allelic: Mental retardation, X-linked 29 + others (ARX)
- Allelic: Microhydranencephaly (NDE1)
- Allelic: Partington syndrome (ARX)
- Allelic: Proud syndrome (ARX)
- Epilepsy, familial temporal lobe, 7 (RELN)
- Lissencephaly 2, Norman-Roberts type (RELN)
- Lissencephaly 4, with microcephaly (NDE1)
- Lissencephaly, X-linked 2 (ARX)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q02
Bioinformatics and clinical interpretation
No text defined