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Lissencephaly syndrome Norman Roberts type (disorder)
Lissencephaly syndrome Norman Roberts type
Microlissencephaly type A
Lissencephaly syndrome, Norman-Roberts type is 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. 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.
lissencefaliesyndroom Norman-Roberts-type
microlissencefalie type A
Id717977003
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteBrain structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified