Table 2.

Group IIa, rare variants likely pathogenic. Group IIb, variants of unclear significance. ND: not determined

	Patient	Sex	Locus	Type of CNV	Copy number state	Clinical features	Region’s minimal size (Kbp)	Minimal breakpoints (bp)	Estimated coefficient of inbreeding (F)	Location of the imbalance	Inheritance	Genes
A. Group IIa, rare variants likely pathogenic
Unknown CNVs but putatively pathogenic	P19	M	5p13.1	Loss	1	Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death	19	39,113,442-39,132,945	0	Interstitial	ND	3 kb of RICTOR
	P20	M	9p24.1p23	Loss	0	Trigonocephaly, gross motor and language milestones delay, ID, a dolichocephalic pattern skull, a mild pachygyria of occipitoparietal lobes, and a mild widening of the frontal pericerebral subarachnoid space	720	8,517,597-9,238,069	1/16	Interstitial	Inherited in an autosomal recessive manner	PTPRD
							175	9,306,105-9,481,477
	P21	F	8q22.3	Loss	0	Ataxia, hearing loss, ID	4	102,690,846- 102,695,425	0	Interstitial	De novo	GRHL2 (intronic)
			21q22.11	Gain	3		67	32,547,099- 32,614,769		Interstitial	De novo	C21orf45
												MRAP
												URB1
	P22	M	8p23.1	Loss	0	Syndactyly, cardiac malformation, DD, ID, ptosis,	284	8,678,807- 8,963,498	1/4	Interstitial	Inherited in an autosomal recessive manner	ERI1, MFHAS1
	P23	M	10q25.2	Loss	0	Psychomotor retardation, autistic features, ID	157	114,038,460- 114,196,241	1/16	Interstitial	Inherited in an autosomal recessive manner	ACSL5
												ZDHHC6
												TECTB
B. Group IIb, Variants of unclear significance
Morbid genes inherited from a healthy parent	P24	M	10q25.3	Loss	1	Autistic behaviour, syringomielia	64	116,960,967-117,025,746	1/16	Interstitial	Maternal	ATRNL1