Term Name: | Legius syndrome |
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Synonyms: | LGSS, neurofibromatosis type 1-like syndrome, NF1-like syndrome |
Definition: | A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14. |
Ontology: | Human Disease [DOID:0070484] ( DOID:0070484 ) |