Human genes for hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [DOID:0111360]
A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in SOX18 on chromosome 20q13.33.
Synonyms: hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, DOID:0111360, hypotrichosislymphedematelangiectasiarenal defect syndrome, hypotrichosis-lymphedema-telangiectasia-renal defect disease, hypotrichosis-lymphedema-telangiectasia-renal defect disorder ...