Table 4.

List of Individuals Whose Phenotypes Represent an Expansion of the Published Phenotypes

ID	Result	Gene	Variant(s)	Zygosity	Phenotypic Expansion Elements
REQ18-2038	Pathogenic or likely pathogenic	ACO2	GenBank: NM_001098.2:c.1187C>T:p.Ser396Leu	Hom	Severe neonatal hypotonia and SMA-like presentation
17-6786	Pathogenic or likely pathogenic	ADAT3	GenBank: NM_138422.4:c.430G>A:p.Val144Met	Hom	Tetralogy of Fallot
17-9070	Pathogenic or likely pathogenic	ATAD3A	GenBank: NM_018188.4:c.1410+1G>A	Hom	Severe fetal presentation
17-6079	Pathogenic or likely pathogenic	ATP11C	GenBank: NM_173694.4:c.1675+2T>C	Hemi	Non-immune hydrops fetalis
17-8295	Pathogenic or likely pathogenic	BEAN1	GenBank: NM_001136106.4:c.180C>G:p.Tyr60Ter	Het	Intellectual disability and epilepsy
17-2136	Pathogenic or likely pathogenic	CACNA1G	GenBank: NM_198384.2:c.4759+1G>A	Het	Microcephaly
17-2687	Pathogenic or likely pathogenic	CCNO	GenBank: NM_021147.4:c.964delC:p.Leu322CysfsTer5	Hom	Infertility
17-2688	Pathogenic or likely pathogenic	CCNO	GenBank: NM_021147.4:c.964delC:p.Leu322CysfsTer5	Het	Infertility
17-2584	Pathogenic or likely pathogenic	CHRNG	GenBank: NM_005199.5:c.1366_1367delAG:p.His457LeufsTer2	Hom	Significant brain involvement
17-1482	Pathogenic or likely pathogenic	COL4A1	GenBank: NM_001303110.1:c.761delT:p.Phe254SerfsTer60	Het	Moyamoya disease
17-3698	Pathogenic or likely pathogenic	ERCC5	GenBank: NM_001204425.1:c.3789delT:p.Asp1263GlufsTer24	Hom	Severe fetal presentation
17-0163	Pathogenic or likely pathogenic	IGFBP7	GenBank: NM_001553.2:c.830-1G>A	Hom	Ischemic stroke, coarctation of aorta, and ductal plate malformation with resulting liver cirrhosis
17-4391	Pathogenic or likely pathogenic	KDM1A	GenBank: NM_015013.3:c.782_783insA:p.Ile262TyrfsTer7	Het	Lack of a cleft
17-2505	Pathogenic or likely pathogenic	NDUFB10	GenBank: NM_004548.2:c.373_375delCAG:p.Gln125del	Hom	Fetal presentation with non-immune hydrops fetalis
18-0283	Pathogenic or likely pathogenic	PARS2	GenBank: NM_152268.3:c.283G>A:p.Val95Ile	Hom	Lack of lactic acidemia and liver involvement (see also 17-8126 and 17-3573 in Table S1. These individuals have the same variant and also lack lactic acidemia and liver involvement.)
17-7203	Pathogenic or likely pathogenic	PEX16	GenBank: NM_004813.2:c.954delG:p.Arg318GlyfsTer39	Hom	Lack of the typical neonatal presentation and presence of hypertonia instead
REQ18-1959	Pathogenic or likely pathogenic	PRKD1	GenBank: NM_002742.2:c.2554G>T:p.Glu852Ter	Hom	Much more severe and complex congenital heart disease (pulmonary atresia, ventricular septal defect, major aortopulmonary collateral artery, patent ductus arteriosus, and hypertrophic cardiomyopathy; on prostaglandin with biventricular hypertrophic cardiomyopathy)
18-0876	Pathogenic or likely pathogenic	RARS2	GenBank: NM_020320.4:c.1123G>A:p.Val375Met	Hom	Lack of pontocerebellar hypoplasia
17-5069	Pathogenic or likely pathogenic	SCN5A	GenBank: NM_001099405.1:c.5776C>T:p.Arg1926Ter	Het	Significant skeletal-muscle involvement and no evidence of cardiac involvement
17-4396	Pathogenic or likely pathogenic	SMAD3	GenBank: NM_001145103.1:c.72delG:p.Arg25GlyfsTer47	Het	Severe intracranial vessel disease
17-1888	Pathogenic or likely pathogenic	SMARCAL1	GenBank: NM_001127207.1:c.1824delT:p.Phe608LeufsTer26	Hom	Significant brain involvement
17-1889	Pathogenic or likely pathogenic	SMARCAL1	GenBank: NM_001127207.1:c.1824delT:p.Phe608LeufsTer26	Hom	Significant brain involvement
17-4116	Pathogenic or likely pathogenic	STAT3	GenBank: NM_003150.3:c.1454delA:p.Asn485ThrfsTer6	Het	Moyamoya disease
17-4750	Pathogenic or likely pathogenic	SURF1	GenBank: NM_003172.3:c.588+1G>A	Hom	SMA-like presentation
17-4613	Pathogenic or likely pathogenic	TCF12	GenBank: NM_001306220.2:c.493G>T:p.Glu165Ter	De novo	Lack of craniosynostosis
17-6229	Pathogenic or likely pathogenic	VIPAS39	GenBank: NM_001193316.1:c.373A>T:p.Arg125Ter	Hom	Basal ganglia abnormalities

Abbreviations are as follows: Hom = homozygous, Het = heterozygous, Hemi = hemizygous, and SMA = spinal muscular atrophy.