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Microlissencephaly

ORPHA1083
Synonym(s) -
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q04.3
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Microlissencephaly is a heterogenous group of a rare cortical malformations characterized by lissencephaly (see this term) in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay and seizures and with survival varying from days to years. Two types have been described: Lissencephaly syndrome, Norman-Roberts type (microlissencephaly type A) and microlissencephaly type B (see these terms).


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