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.

Recently, only two splice-site mutations of the UBE2A gene have been observed in patients with X-linked ID type Nascimento (XLID). We found a novel splice site mutation in UBE2A (c.241+1 G>A) and novel clinical appearances, including a typical four-finger line and erected head unstable.