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Metadata
ID DOID:0060902
Name Norman-Roberts syndrome
Definition A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.
https://www.ncbi.nlm.nih.gov/pubmed/10973257, https://www.ncbi.nlm.nih.gov/pubmed/15083694
Xrefs

MESH:C537848

OMIM:257320

ORDO:89844

SNOMEDCT_US_2023_03_01:717977003

UMLS_CUI:C0796089

Subsets

DO_rare_slim

Synonyms

lissencephaly 2 [EXACT]

lissencephaly syndrome, Norman-Roberts type [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a lissencephaly

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