Rs72554632

Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation resulting from MAOA deficiency due to the premature stop codon detected by rs72554632.

dbSNP reports rs72554632 (C/T; CAT->TAG; QLN->STOP(AMBER)) as probably pathogenic, NP_000231.1 Gln296X.