Table 1. Rare and novel exonic missense variants shared between the three affected individuals after variant filtering.

		CFAP65	RFT1	NRXN2	TEP1	CCNF
		p.T1023A	p.A463G	p.G849D	p.Y412C	p.C363S
Affected individuals	III-8 (proband)	Present	Present	Present	Present	Present
	III-7	Present	Present	Present	Present	Present
	IV-2	Present	Present	Present	Present	Present
	III-6	Present	Present	Present	Present	Present
	III-2	Present	Absent	Absent	Absent	Absent
Unaffected individuals	III-4	Absent	Absent	Absent	Absent	Present
	IV-1	Absent	Absent	Absent	Absent	Present
	III-1	Absent	Absent	Absent	Absent	Present
	III-5	Absent	Absent	Absent	Absent	Absent

Present, variant present; Absent, variant absent