Table 2.

Clinical summary of the patients with FOXG1duplications

	Yeung et al. [2009]	Brunetti-Pierri et al. [2011]
Case number	1	7
Sex	female	6 males, 1 female
Age range	9	19 months-35 years
Normal OFC at birth	yes	1 normal; 6 N/A
Deceleration of head growth from birth (microcephaly)	no	2/7
Regression	yes (3–6 months)	1/6, 1N/A
Develomental delay/mental retardation	yes	7/7
Hypotonia	yes	1/7
Absence/delayed speech	no	7/7
Walk	yes	5/7
Ophthalmological abnormalities	no	Keratoconus 1/7
Seizures	yes (3 months)	4/7 (1 generalized tonic-clonic seizures,
		3 infantile spasms)
Dysmorphic features	N/A	4/7
Cleft palate	no	1/7
Postaxial polydactyly	no	1/7
Syndactyly	yes	1/7
Deletion size	4.45 Mb	3.1–18.4 Mb

N/A = Not available.

^aIncluding the DECIPHER 248559 patient.