cytogenetic location (pink box) of the RBM8A gene 0lon 1q21.1 This condition requires mutations in both chromosomes. The first mutation is inheritance of a 1q21.1 deletion and the second is in the remaining in the RBM8A gene. Approximately 95% of<unk>  patients have one non-functional copy of the RBM8A gene.
TAR syndrome
Andersen–Tawil syndrome
CAMFAK syndrome
MEDNIK syndrome
L1 syndrome
Wells-Jankovic syndrome
WHIM syndrome
Hecht Scott syndrome