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Lissencephaly syndrome, Norman-Roberts type
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.
ORPHA:89844Classification level: Subtype of disorder
- Microlissencephaly type A
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q04.3
- OMIM: 257320
- UMLS: C0796089
- MeSH: C537848
- GARD: -
- MedDRA: -
The prevalence is unknown.
Severe intellectual deficit, spasticity and epilepsy are also present.
Mutations in the RELN gene (7q22) have been identified in some patients.
Transmission is autosomal recessive.