Legius syndrome (DOID:0070484)
Alliance: disease page
Synonyms: LGSS; neurofibromatosis type 1-like syndrome; NF1-like syndrome
Alt IDs: OMIM:611431, MESH:C548032, NCI:C176941, ORDO:137605, UMLS_CUI:C1969623
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.