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Norman-Roberts syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem.
Disease Ontology Description A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.
Mondo Term and Equivalent IDs
MONDO:0009760:  Norman-Roberts syndrome
GARD:0003277: 
Orphanet:89844: 
SCTID:717977003: 
UMLS:C0796089: