This syndrome is caused by mutations in the sterile alpha motif domain containing 9-like (SAMD9L) gene. This gene is located on the long arm of chromosome 7.
Ataxia-pancytopenia syndrome
SAPHO syndrome
Ataxia–telangiectasia
Bare lymphocyte syndrome type II
AIDS-related complex
OSLAM syndrome
Bare lymphocyte syndrome
Hypotrichosis–lymphedema–telangiectasia syndrome