Table 1 Phenotypic and genotypic features of FOXG1 syndrome in 122 individuals

n

19

39

18

38

122

Mean age in years (range)

7.05

(2 – 20)

6.05

(1 – 19)

5.50

(1 – 15)

7.47

(< 1 – 24)

6.67

(< 1 – 24)

Mean age at diagnosis in years (range)

2.53

(< 1 – 10)

3.67

(< 1 – 17)

2.44

(< 1 – 7)

4.71

(< 1 – 21)

3.61

(< 1 – 21)

n (%)

Female

7 (36.8)

11 (28.2)

9 (50.0)

19 (50.0)

52 (42.6)

Variant Reported

De Novo

17 (89.5)

33 (84.6)

16 (88.9)

29 (76.3)

99 (83.9)

Variant Confirmed

De Novo

9 (47.4)

26 (66.7)

9 (50.0)

14 (36.8)

62 (52.5)

Parental Mosaicism

0 (0.0)

2 (5.1)

0 (0.0)

2 (5.3)

6 (5.1)

Diagnostic test

Gene Panel

36 (35.3)

Exome Sequencing

35 (34.3)

aCGH

23 (22.5)

FOXG1 sequencing

5 (4.9)

Karyotype

2 (2.0)

Family variant test

1 (1.0)

n (%)

Epilepsy

13 (81.3)

16 (47.1)*

12 (70.6)

19 (57.6)

65 (61.3)

Movement Disorder

13 (81.3)

19 (55.9)

9 (52.9)

17 (51.5)

61 (57.5)

Epilepsy + Movement Disorder

11 (68.75)

9 (26.5)

8 (47.1)

11 (33.3)

42 (39.6)

Cortical Visual Impairment

12 (63.2)

9 (23.1)*

10 (55.6)

18 (47.4)

50 (41.0)

Strabismus

6 (46.2)

12 (42.9)

13 (81.3)

22 (78.6)

56 (63.6)

Hearing Loss

1 (5.3)

2 (5.1)

1 (5.6)

1 (2.6)

5 (4.1)

Mobility Device

16 (84.2)

23 (59.0)

12 (66.7)

28 (75.7)

84 (69.4)

Feeding Tube

11 (57.9)

7 (18.0)*

7 (38.9)

12 (32.4)

41 (33.9)

Autism

2 (12.5)

10 (32.3)

1 (6.3)

6 (19.4)

19 (19.2)