Table 2

Clinical features of female patients with alterations in the FOXG1 gene

Feature	This study		Ariani et al11		Shoichet et al16	Bisgaard et al29	Papa et al25	Kamnasaran et al28
Feature	Patient 1	Patient 2	Case 1	Case 2	Shoichet et al16	Bisgaard et al29	Papa et al25	Case 3 (Grammatico et al26)	Case 5 (Schuffenhauer et al27)
Mutation	p.Trp308X	p.Tyr400X	p.Trp255X	p.Ser323fsX325	t(2;14)(p22;q12) breakpoint in intron 3	2.65–3.5 Mb deletion and t(X;3)	3.4 Mb deletion	∼4 Mb deletion	∼10 Mb deletion
Gender	F	F	F	F	F	F	F	M	M
Age at last clinical examination (years)	22	11	22	7	7	14	7	7	3
Normal perinatal period	Yes	Yes	Yes	Yes	No	Yes	Yes	?	No
Age of onset	4 months	6 months	3 months	3 months	2 weeks	7 months	6 months	few months	–
Acquired microcephaly	Yes	Yes	Yes	Yes	Yes	Yes	No (present at birth)	Yes	Yes
Loss of voluntary hand use	No	No	?	?	?	?		?	?
Hand stereotypies	Yes	Yes	Yes	Yes	?	?	Yes	?	No
Speech	No	No	No	No	No	?		?	No
Cognitive impairment	Yes (severe)	Yes	Yes	Yes	Yes	?	Yes	Yes	Yes
Autistic features	Yes	Yes	?	?	No	?	Yes	Yes	?
Walking	No	Yes (at 2.5 years)	No	No	No	?	No	?	No
Hypotonia	Yes	No	?	?	No (muscle rigidity)	?	Yes	Yes	Yes
Inappropriate laughing	Yes	Yes	?	?	?	?		?	?
Growth retardation	Yes	No	?	?	?	?	Yes (intrauterine)	?	Yes
Bruxism	Yes	No	Yes	Yes	?	?	Yes	?	?
Abdominal bloating	Yes	No	?	?	?	?	Yes	?	?
Breathing irregularities	No	No	Yes	Yes	?	?		?	?
Scoliosis	No	No	Yes	Yes	?	?	Yes	?	?
Cold feet	No	No	Yes	Yes	?	?	Yes	?	Yes
Brain malformations	Yes	No	Yes	Yes	Yes	No	No	?	Yes
Corpus callosum	Hypoplasia	–	Hypoplasia	Hypoplasia	Agenesis	–	–	?	Agenesis
Ventricles	Enlargement	–	No	No	Enlargement	–	–	–	Yes (asymmetric)
Epilepsy (age of onset)	Yes (2nd year)	No	Yes (14 years)	Yes (21/2 years)	Yes (?)	No	Yes (6 months)	Yes	No
MECP2/CDKL5 tested	Yes/Yes	Yes/No	Yes/Yes	Yes/Yes	No/No	No/No	Yes/Yes	No/No	No/No

Large deletions that were not precisely mapped by means of molecular analysis were not included.