lissencefaliesyndroom Norman-Roberts-type (aandoening)
lissencefaliesyndroom Norman-Roberts-type
microlissencefalie type A
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.
Associated morphologymorfologische afwijking
Finding sitebotstructuur van hoofd
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map89844
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified