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 )

Relationships
is a type of: autosomal recessive disease syndrome