©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMicrocephaly + periventricular nodulary heterotopias, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Microcephaly + periventricular nodulary heterotopias comprising 4 guideline-curated and altogether 8 curated genes according to the clinical signs

ID
MP1226
Number of genes
8 Accredited laboratory test
Examined sequence length
18,2 kb (Core-/Core-canditate-Genes)
38,7 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
ARFGEF25358NM_006420.3AR
ERMARD2037NM_018341.3AD
FLNA7920NM_001456.4XL
NEDD4L2868NM_015277.6AD
ARF1685NM_001024226.2AD
DCHS19897NM_003737.4AR
EML12448NM_004434.3AR
MAP1B7414NM_005909.5AD

Informations about the disease

Clinical Comment

Brain malformation, due to abnormal neuronal migration, subset of neurons fails to migrate into the developing cerebral cortex, remains as nodules lining ventricular surface. Classical PNH: rare X-linked dominant disorder far more frequent in females with normal intelligence to borderline intellectual deficit, epilepsy of variable severity, extra-central nervous system signs, especially cardiovascular defects, coagulopathy; generally prenatal lethality in males.

 

Synonyms
  • Alias: Microcephaly combined with periventricular nodular heterotopias
  • Allelic: Cardiac valvular dysplasia, X-linked (FLNA)
  • Allelic: Congenital short bowel syndrome (FLNA)
  • Allelic: FG syndrome 2 (FLNA)
  • Allelic: Frontometaphyseal dysplasia 1 (FLNA)
  • Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
  • Allelic: Melnick-Needles syndrome (FLNA)
  • Allelic: Mitral valve prolapse 2 (DCHS1)
  • Allelic: Otopalatodigital syndrome, type I (FLNA)
  • Allelic: Otopalatodigital syndrome, type II (FLNA)
  • Allelic: Terminal osseous dysplasia (FLNA)
  • Band heterotopia (EML1)
  • Heterotopia, periventricular, 1 (FLNA)
  • Periventricular heterotopia with microcephaly (ARFGEF2)
  • Periventricular nodular heterotopia 6 (ERMARD)
  • Periventricular nodular heterotopia 7 (NEDD4L)
  • Periventricular nodular heterotopia 8 (ARF1)
  • Periventricular nodular heterotopia 9 (MAP1B)
  • Van Maldergem syndrome 1 (DCHS1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined