Legius syndrome

Term ID

DOID:0070484

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. https://pubmed.ncbi.nlm.nih.gov/34012067/

References

• GARD:10714
• MESH:C548032
• NCI:C176941
• OMIM:611431
• ORDO:137605
• SNOMEDCT_US_2023_03_01:703541007
• UMLS_CUI:C1969623

Ontology

Human Disease   ( DOID:0070484 )