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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMicrocephaly + hydranencephaly, differential diagnosis

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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)
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
FLVCR21581NM_017791.3AR
NDE11008NM_001143979.2AR
WDR815826NM_001163809.2AR

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