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Lissencephaly syndrome, Norman-Roberts type

ORPHA89844
Synonym(s) Microlissencephaly type A
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q04.3
OMIM
UMLS
  • C0796089
MeSH
  • C537848
MedDRA -

Summary

Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. The prevalence is unknown. Severe intellectual deficit, spasticity and epilepsy are also present. Transmission is autosomal recessive. Mutations in the RELN gene (7q22) have been identified in some patients.


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