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IllnessMikrozephalie mit Lissenzephalie, dünner Kortex

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Summary

Short information

Comprehensive differential diagnostic panel for Microcephaly + lissencephaly [thin cortex] comprising 2 guideline-curated genes as well as 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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
RELN10383NM_005045.4AR
NDE11008NM_001143979.2AR

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

Bioinformatics and clinical interpretation

No text defined