Table 4.

Clinical information on patients with PTCHD1 variants

Clinical features	Pt1	Pt2	Pt3
Gender	Male	Male	Male
Variant	chrX: 23,269,452-23,364,920	chrX: 23,395,713-23,487,393a	chrX: 23,140,737-23,360,470a
	95 kb, exon 1 deletion	92 kb, exons 2–3 deletion	220 kb, exon 1 deletion
Confirmation method	N/A	PCR + Sanger	PCR + Sanger
Affected genes	PTCHD1	PTCHD1	PTCHD1
Inheritance	Mat	Unknown	Unknown
Parental studies	CMA	N/A	N/A
ASD	+	N/A	Autistic features
DD/ID	+	+	+
ADHD	+	N/A	+
Other	Hypotonia, speech impairment	N/A	N/A

^a - CNV coordinates obtained using PCR and Sanger sequencing of breakpoint junction

N/A not available, DD developmental delay, ID intellectual disability, Mat maternal