Table 1.

Clinical manifestations and candidate mutations in the patients with developmental delay and/or intellectual disability.

Patients	Age	Clinical manifestations				Gene	Base change	AA change	# OMIM	Inheritance
		DD	ID	Epilepsy	Other
46_S11	1–5	P	nd	N	Hypotonia	ZDHHC9	c.286C>T	p.Arg96Trp	# 300799	de novo
88_S3	1–5	P	nd	N	Hypotonia	SMARCB1	c.31G>A	p.Gly11Arg	# 614608	de novo
47_S3	10–15	P	P	N	Obesity, ADHD	CHD8	c.4651C>T	p.Arg1551Cys	# 615032	de novo
35_S11	1–5	P	nd	P	Hypotonia	LAMA5	c.10828+1G>A		nd	de novo
69_S7	1–5	P	P	N	Overgrowth	NSD1	c.1789G>T	p.Glu866*	# 117550	de novo
41_S5	10–15	P	P	N	Aniridria, ASD	PAX6	c.19G>T	p.Gly7*	# 106210	de novo
36_S4	10–15	P	P	P	VSD	CACNA1H	c.5675G>A	p.Arg1892His	# 611942	de novo
46_S3	5–10	P	P	P	ASD	MBD5	c.254_255delGA	p.Arg85Asnfs*6	# 156200	Paternal
38_S2	5–10	P	P	N	ASD	FOXP1	c.155C>T	p.Ala52Val	# 613670	de novo
108_S9	10–15	N	P	N	Migraine	KCNK18	c.301T>C	p.Trp101Arg	# 613656	Maternal

AA, amino acid; rs ID, reference SNP number; # OMIM, online mendelian inheritance in man databases; DD, developmental delay; ID, intellectual disability; P, positive; N, negative; nd, not determined; ADHD, attention deficit hyperactivity disorder; ASD, autism spectrum disorder; VSD, ventricular septal defect.