Table 1.

Summary of clinical features and neurodevelopmental profiles.

	Case 1	Case 2	Case 3
Age at first visit	11 m	7 m	6 m
Birth history
Gestational age	40 wks	39 wks	40+4 wks
Birth weight	3.1 kg	3.2 kg	3.5 kg
Mode of delivery	Cesarean section	Spontaneous	Spontaneous
Anthropometric data
Height	80.4 cm (85 p)	69.7 cm (85 p)	68.4 cm (50 p)
Body weight	8.7 kg (50 p)	6.8 kg (10 p)	8.8 kg (75 p)
Head circumference	42 cm (<3 p)	40 cm (<3 p)	40 cm (< 3p)
FOXG1 mutation
Nucleotide change	c.761A > C	c.958delC	c.506dup
Amino acid change	p.Tyr254Ser	p.Arg320Alafs	p.Lys170Glnfs
Inheritance	de novo	de novo	de novo
Type of mutation	Missense	Frameshift	Frameshift
ACMG	Likely pathogenic	Pathogenic	Pathogenic
Last follow-up	60 m	18 m	56 m
Motor development
Sitting	13 m (unassisted)	18 m (assisted)	14 m (assisted)
Walking alone	24 m	No	No
Functional hand use	43 m	No	14 m
Speech development
Can speak words	35 m	No	No
Expressive speech	43 m	No	No
Behavior
Social interactions	13 m	Poor	8 m (social smile)
Eye contact	11 m	11 m	9 m
Abnormal sleep pattern	No	Yes	Yes
Neurological feature
Epilepsy	No	No	Focal epilepsy
Stereotypic/dyskinetic movement	No	No	Orolingual dyskinesia
Spasticity	No	Yes, lower leg	No
Strabismus	No	No	Yes