Term Name: | hypotrichosis-lymphedema-telangiectasia syndrome |
---|---|
Synonyms: | HLTS |
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 the SOX18 gene on chromosome 20q13.33. |
Ontology: | Human Disease [DOID:0111361] ( DOID:0111361 ) |