| 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 |
SNOMEDCT_US_2023_03_01:717977003 |
| Subsets |
DO_rare_slim |
| Synonyms |
lissencephaly 2 [EXACT] lissencephaly syndrome, Norman-Roberts type [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a lissencephaly |