Table 2.

Phenotype details of individuals with LOF variants in STAG2

	Present study						Mullegama et al., 2017	Aoi et al., 2019		Yuan et al., 2019
	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6		Patient 1	Patient 2	Patient 1	Patient 2	Patient 3
Variant	c.3034C>T p.(R1012*)	c.205C>T p.(Arg69*)	c.436C>T p.(R146*)	c.2533+1G>A	c.2898_2899del p.(Glu968Serfs *15)	c.775C>T p.(Arg259*)	c.205C>T p.(Arg69*)	c.3097C>T p.(Arg1033*)	c.2229C>T p.(Trp743*)	c.418C>T p.Q140*	c.1605T>A p.C535*	c.1658_1660delinsT p.K533Ifs*6
Inheritance	De novo	De novo	Singleton	Maternal	De novo	De novo	De novo	De novo	De novo	De novo	De novo	De novo
Sex	Female	Female	Female	Female	Female	Female	Female	Male	Female	Female	Female	Female
Age	Newborn	2 years	32-week gestation	Newborn/ deceased	12 months	9.5 years	8 years	foetus	7 years	3.7 years	4.5 years	1.9 years
Brain MRI/HPE type	Alobar	Semi-lobar	Alobara	Semi-lobar	Microform	Septo-optic dysplasia	Dysgenesis of the splenium of the corpus callosum	HPE (unspecified)	White matter hypoplasia	NR	NR	Microform; agenesis of corpus callosum; colpocephaly
Developmental delay	NA	Global	NA	NA	+	Intellectual disability; motor delay;	Speech	NR	Intellectual disability; developmental delay	Motor and speech delay	Intellectual disability; motor and speech delay	Intellectual disability; motor and speech delay
Craniofacial anomalies	Midline cleft lip/palate	Cleft palate; micrognathia	Cyclopia; absent nose, microsomia, hypognathia	−	NR	−	Submucous cleft palate	Cleft lip/palate	Cleft palate	−	Micrognathia	Single central incisor; micrognathia
Microcephaly	+	+	+	Severe	+	−	+	NR	−	−	+	+
Ear anomalies and hearing	Low-set	−	Hypoplastic right ear	NR	NR	−	Bilateral microtia with hearing loss	NR	Hearing loss	Dysmorphic ears	Microtia, right; conductive hearing loss	Dysmorphic ears
Vertebral anomalies	Lumbar spina bifida	−	T7−T10 hemivertebrae	NR	NR	NR	Thoracic hemivertebrae and butterfly vertebrae	NR	Thoracic hemivertebrae	Vertebral clefts	NR	+
Congenital heart disease	NR	Patent foramen ovale and patent ductus arteriosus	Ventricular septal defect	Hypoplastic left heart; DORV	−	Ventricular septal defect	Ventricular septal defect	Hypoplastic left heart	−	Hypoplastic left heart	NR	NR
Growth delay	NR	+	NA	NA	+	−		NR	Short stature	−	+	+
Limb anomalies	-	−	NR	−	NR	Left hip dysplasia	Bilateral fifth finger clinodactyly	NR	NR	−	Fifth finger clinodactyly	−
Other	Gastroesophageal reflux and has a G-tube and Nissen fundoplication		Duodenal atresia			Bilateral optic nerve hypoplasia			Seizure disorder	Seizure disorder		Seizure disorder

DORV = double outlet right ventricle; NA = non-applicable; NR = not reported.

^aAutopsy finding.