Table 1:

Pathogenic variants and variants of unknown significance (VOUS) identified in this study

Gene	Inheritance	Inferred Effect	GRCh37/hg19 Genomic Coordinate	cDNA Change	Protein Change	CADD	gnomAD (AC)
GNAO1	de novo	Likely-pathogenic	chr16:g.56368706G>C	NM_138736.2:c.530G>C	p.(Arg177Pro)	35.0	0
KCNB1	de novo	Pathogenic	chr20:g.47990350G>A	NM_004975.2:c.1747C>T	p.(Arg583*)^	37.0	0
KCNB1	de novo	Pathogenic	chr20:g.47990988C>T	NM_004975.2:c.1109G>A	p.(Trp370*)	39.0	0
SLC35A2	de novo	Likely-pathogenic	chrX:g.48763706T>C	NM_005660.1:c.389A>G	p.(Tyr130Cys)	22.9	0
STXBP1	de novo	Likely-pathogenic	chr9:g.130416028T>C	NM_003165.3:c.122T>C	p.(Leu41Pro)	24.1	0
TBL1XR1	de novo	Likely-pathogenic	chr3:g.176771679C>T	NM_024665.4:c.86G>A	p.(Gly29Asp)	33.0	0
KIF1A	unknown	Pathogenic	chr2:g.241723197C>T	NM_001244008.1:c.757G>A	p.(Glu253Lys)^	34.0	0
	19.7% Mosaic	VOUS	chr2:g.241662963C>T	NM_001244008.1:c.4331G>A	p.(Arg1444Gln)	35.0	1
FASN	de novo	VOUS	chr17:g.80044266G>A	NM_004104.4:c.3596C>T	p.(Ala1199Val)	6.06	3
HDAC4	unknown	VOUS	chr2:g.239990214G>A	NM_006037.3:c.2825C>T	p.(Pro942Leu)	20.4	0
PNMAL1	unknown	VOUS	chr19:g.46973812T>C	NM_018215.3:c.481A>G	p.(Ile161Val)	9.21	0
PPP3CA	unknown	VOUS	chr4:g.102015013G>T	NM_000944.4:c.702C>A	p.(Asp234Glu)	27.0	0

^{^,}recurrent pathogenic variant