Abstract
Here we report a 5 year old girl with a new frameshift mutation
(c.2318dup:p.S774Vfs*12) in the KMT2A gene.The patient’s clinical
manifestations: postnatal growth retardation, early teething, rapid
tooth replacement,dysplasia of dentition; wide eye spacing; generalized
hirsutism; stubby fingers; low muscle tension and retarded mental
development.