hypotrichosis-lymphedema-telangiectasia syndrome (DOID:0111361)
Alliance: disease page
Synonyms: HLTS
Alt IDs: OMIM:607823, MESH:C564327
Definition: A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in SOX18 on chromosome 20q13.33.