Table 1. Comparative summary of the clinical features linked to FOXG1 deletions.

	This study	Ariani et al3	Papa et al16	Bisgaard et al15	Shoichet et al17
Genetic lesion	Deletiona	Stopb; deletionc	Deletiond	t, deletione	t, invf
Sex	F	F;F	F	F	F
Birth weight (g)	3940	Normal	2730	3200	3355
Birth length (cm)	50	Normal	48.5	53	50
Birth OFC (cm)	32.5	Normal	32	33	36
Postnatal growth retardation	−	+;+	+	N.A.	+
Psychomotor retardation/mental retardation	+	+;+	+	+	+
Seizures	+	+;+	+	+	+
Brain MRI	Normalg	c.ch;c.c	Normal	Normal	Abnor.i
Microcephaly	+	+;+	+	+	+
Prominent metopic	−	N.A.
Suture	−		+	+	N.A.
Ears	Low	N.A.	Large	Large	N.A.
Synophrys	+	−;?	−	−	N.A
Epicanthal folds	−	N.A.	Bilateral	Bilateral	N.A.
Nasal bridge	Depressed	N.A.	Depressed	Depressed	N.A.
Nasal tip	Bulbous	N.A.	Bulbous	Bulbous	Broad
Lips	Thin	N.A.	Thick	Everted	N.A.
Prognathism	Pointed chin	+;+	+	N.A.	N.A.
Tongue protrusion	+	+;+	+	N.A.	N.A.
Hypotonia	+	+;+	Generalized	N.A.	N.A.
Scoliosis	−	+;−	Mild	N.A.	N.A.
Gastroesophageal reflux	+	N.A.;N.A.	+	N.A.	N.A.
Bruxism	+	+;+	+	N.A.	N.A.
Scialorrhea	+	+;+	+	N.A.	N.A.
Cold extremities	−	+;+	+	N.A.	N.A.
Postnatal regression	−		After 6 months	N.A.	−
Stereotypic movements	Face, Limb	UE;UEj	Hands, tongue	N.A.	N.A.

NA, Not applicable.

^a3-Mb deletion covering only FOXG1.

^bStop-codon mutation within the forkhead domain of FOXG1.

^c1-bp deletion in FOXG1 causing the loss JARID1B-interacting domain and misfolding of the groucho binding.

^d3-Mb deletion, including FOXG1B, PRKD1, SCFD1, COCH and STRN3.

^eTranslocation inherited from healthy mother (X;3) detected on karyotype and deletion 14q12 detected by CGH.

^fBalanced de novo translocation t(2;14)(p22;q12) with a neighbouring 720-kb inversion in chromosome 14q12.

^gBrachycephaly.

^hc.c., Corpus callosum.

ⁱCallosal agenesis and frontal/parietal myelination defects.

^jU.E, upper extremity. Jerky movements in the upper extremities.

We review studies identifying genetic lesions, including FOXG1 deletion in cases of congenital Rett variant. Studies included are those by Ariani et al³ Papa et al¹⁶ Bisgaard et al¹⁵ and Shoichet et al.¹⁷ We adapted the clinical characteristics from Papa et al.¹⁶