Table 2. Summary of the main clinical features of all known patients (15) with Bainbridge–Ropers syndrome and ASXL3 LoF variant identified so far.

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Indiv. 1–4 Bainbridge etal2	Dinwiddie et al10	Indiv. 1–3 Srivastava et al11	Hori et al12	Total n=15 (a)
Characteristic facial dysmorphism (b)	+	+	+	+	+	+	+ (4/4)	n.a.	+ (2/3)	n.a.	12/13
Intellectual disability	(too young)	++	++	++	++	++	++ (4/4)	++	+ (2/2)	+	14/14
Feeding difficulties	+	+	+	+	+	+	+ (3/4)	+	+ (3/3)	+	14/15
Muscular hypotonia	+	+	++	+	+	++	+ (3/4)	+	+ (3/3)	−	13/15
Motor delay	+	+ +	++	++	+ +	++	+ (4/4)	++	+ (3/3)	+	15/15
Speech impairment	+	++	++	++	++	++	?? (1/1)	++	+ (3/3)	+	12/12
Seizures	−	−	−	−	+	+	−(0/4)	−	+ (1/3)	−	3/15
Birth measurements	Normal	Normal	Normal	Normal	Normal	Normal	SGA (2/4)	Normal	SGA (1/3)	SGA	Normal in 11/15, SGA in 4/15
Postnatal growth	Normal	Short	Normal	Normal	Normal	Normal	Short (2/4)	Normal	Normal (1/1)	Short	Normal in 9/13, short in 4/13
Postnatal OFC	↓	Normal	Normal	Normal	Normal	Normal	↓ (2/3)	↓	Normal (3/3)	↓	Normal in 9/14, ↓ in 5/14

Abbreviations: n.a., not applicable; OFC, occipito-frontal circumference; SGA, small for gestational age.

^aNot every feature was documented for all patients; therefore the total number of patients can differ.

^bCharacteristic craniofacial features comprise a longish face with prominent forehead, temporal narrowing, arched eyebrows, (synophrys), downslanting palpebral fissures, prominent columella and small alae nasi, downturned corners of the mouth and little facial expression/open mouth appearance.