Human genes for hypotrichosis-lymphedema-telangiectasia syndrome
Hypotrichosis-lymphedema-telangiectasia syndrome [DOID:0111361]
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 SOX18 on chromosome 20q13.33.
Synonyms: hypotrichosis-lymphedema-telangiectasia syndrome, DOID:0111361, hypotrichosislymphedematelangiectasia syndrome, hypotrichosis-lymphedema-telangiectasia disease, hypotrichosis-lymphedema-telangiectasia disorder ...