Term Name: hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Synonyms: glomerulonephritis with sparse hair and telangiectases, HLT-renal defect syndrome, HLTRS, hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome, telangiectatic membranoproliferative glomerulonephritis
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.
Ontology: Human Disease [DOID:0111360]   ( DOID:0111360 )

Relationships
is a type of: autosomal dominant disease syndrome