DISEASES

Disease-gene associations mined from literature

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 ...