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GTR Home > Tests > Lissencephaly: PAFAH1B1 (LIS1), DCX, POMT1, POMGnT1 and FLNA genes deletions-duplications analysis (MLPA)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

DCX-related disorders include the neuronal migration disorders: Classic thick lissencephaly (more severe anteriorly), usually in males. Subcortical band heterotopia (SBH), primarily in females. Males with classic DCX-related lissencephaly typically have early and profound cognitive and language impairment, cerebral palsy, and epileptic seizures. The clinical phenotype in females with SBH varies widely with cognitive abilities that range from average or mild cognitive impairment to severe intellectual disability and language impairment. Seizures, which frequently are refractory to anti-seizure medication, may be either focal or generalized and behavioral problems may also be observed. In DCX-related lissencephaly and SBH the severity of the clinical manifestation correlates roughly with the degree of the underlying brain malformation as observed in cerebral imaging.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Cerebellar ataxia
  • Dysarthria
  • Spasticity
  • Nystagmus
  • Seizure
  • Corpus callosum, agenesis of
  • Lissencephaly
  • Gray matter heterotopia
  • Axial hypotonia
  • Motor delay
  • Postnatal growth retardation
  • Agyria
  • Intellectual disability
  • Micropenis
  • Pachygyria
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Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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