It is characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency, radiation sensitivity and a strong predisposition to lymphoid malignancy.<unk>  is caused by a mutation in the<unk> 1 gene. Unsurprisingly, many of the features are similar to ataxia telangiectasia (AT) and this syndrome was sometimes termed AT-variant 1, as the protein mutated in AT, ATM, interacts with the MRE11/RAD50/NBS1 (MRN) complex. Other syndromes with clinical features similar to<unk>  include RAD50 deficiency and Cernunnos/NHEJ deficiency.
Nijmegen breakage syndrome
Peutz–Jeghers syndrome
Mismatch repair cancer syndrome
Warsaw breakage syndrome
MUTYH-associated polyposis
Letterer–Siwe disease
Sturge–Weber syndrome
Van Den Bosch syndrome