Table 1.

Analysis of KMT2A mutations in Wiedemann-Steiner syndrome vs ID/DD

	Wiedemann-Steiner syndrome (%)	ID/DD (%)	This study (ID/DD)
Missense	14 (20.9%)	8 (32)*
Nonsense	22 (32.8)*	5 (20)
Splicing	4 (6.0)	2 (8)
Small deletion	18 (26.9)	8 (32)	1
Small insertion	7 (10.4)	2 (8)
Gross deletion	2 (2.9)	0 (0)
Total LoF alleles	53 (79.1)*	17 (68)	1
Total mutations	67	25	1

*, P < 0.01