hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (DOID:0111360)
Alliance: disease page
Synonyms: glomerulonephritis with sparse hair and telangiectases; HLT-renal defect syndrome; HLTRS; hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; telangiectatic membranoproliferative glomerulonephritis
Alt IDs: OMIM:137940
Definition: A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33.