Table 2 Genetic data, clinical features, and MRI findings of patients in this study

Age

3y0m

2y3m

6y8 m

4y2m

4y9m

4y6m

16y

4y8 m

7y4m

9y

2y10m

3y6m

2y0m

Sex

F

M

M

F

F

F

M

M

M

M

M

M

M

Elevated p-S6 protein (Relative density)

+ (3.4)

+ (3.0)

+ (3.8)

+ (3.6)

ND

+ (2.1)

+ (2.1)

+ (2.8)

+ (2.6)

- (0.8)

- (0.9)

- (1.1)

- (1.0)

Gene

AKT3

PIK3R2

PIK3R2

PTEN

PTEN

PTEN

-

-

-

-

-

-

-

Mutation

c.686A > G p.(N229S)

c.1117G > A p.(G373R)

c.1117G > A p.(G373R)

c.640C > T p.(Q214*)

c.740 T > C p.(L247S)

c.1006C > G p.(Y336*)

Unknown

Unknown

Unknown

Unknown

Unknown

Unknown

Unknown

Inheritance

de novo

de novo

de novo

Mother negative

de novo

de novo

-

-

-

-

-

-

-

 Gestational age

36w5d

36w6d

40w1d

37w4d

38w6d

39w5d

36w6d

36w5d

41w0d

38w1d

39w

38w6d

38w3d

 Birth weight g (SD)^a

2942 (+1.4)

3450 (+2.7)

3532 (+1.2)

2536 (−0.3)

2854 (+0)

3200 (+0.7)

2915 (+1.0)

3490 (+3.0)

2464 (−2.3)

3885 (+3.3)

3830 (+2.6)

4120 (+3.5)

3866 (+3.0)

 Birth length cm (SD)^a

47.5 (+0.3)

49.2 (+1.0)

52.5 (+1.4)

47 (−0.4)

50 (+0.7)

51 (+1.0)

48 (+0.4)

48.8 (+0.9)

47 (−1.6)

50.6 (+1.3)

NA

NA

48.4 (+0)

 Birth OFC cm (SD)^a

39 (+4.9)

36 (+2.5)

34 (+0.4)

33 (+0.1)

33 (−0.1)

34 (+0.5)

35 (+1.8)

37 (+3.3)

30 (−2.0)

41 (+6.4)

36.5 (+3.0)

37 (+3.0)

39 (+4.6)

 Birth OFC percentile ^a

>99

>99

67

53

44

70

96

>99

2

>99

>99

>99

>99

 Last weight SD^b

−1.9

0

−2.3

+0.4

−0.7

+0.8

−2.6

−0.2

−1.2

−0.2

+2.8

+2.2

+1.4

 Last length SD^b

−2.0

−0.2

−2.8

−0.4

−1.9

+0.2

−3.3

−1.3

−2.7

1.1

+0.7

−1.8

+0.2

 Last OFC SD^c

+6.3

+4.6

+3.0

+4.5

+4.3

+3.5

+4.9

+4.6

+2.0

+8.5

+5.4

+3.8

+4.5

 Last OFC percentile ^c

>99

>99

>99

>99

>99

>99

>99

>99

98

>99

>99

>99

>99

 Overgrowth /Asymmetry

-

+

-

-

-

-

-

-

-

+

-

+

-

 Vascular malformations

-

-

-

-

-

-

-

-

-

+

-

-

+

 Syndactyly

-

-

-

-

-

-

-

-

-

-

-

-

-

 Polydactyly

-

-

-

-

-

-

+

-

-

+

-

+

-

 Connective tissue dysplasia

-

+

-

-

-

-

-

-

+

-

-

-

-

 Dysmorphic features

+

+

+

+

+

+

+

+

+

+

+

+

+

 DQ (assessed method) age

DD

DQ 42 (Denver) 10 m

DD

DQ 76 (KIDS) 2y5m

DQ 85 (KIDS) 4y6m

DQ 59 (K-test) 4y1m

DQ 12 (KIDS) 6y6m

DQ 71 (K-test) 6y8 m

DQ 35 (KIDS) 5y9m

DD

DQ 72 (K-test) 3y0m

DQ 46 (K-test) 1y7m

NA

 Meaningful words

-

-

-

1y6m

8 m

2y6m

+

2y

-

+

2y

-

-

 Walking alone

-

-

-

2y4m

2y2m

1y6m

+

1y11m

1y11m

4y6m

1y6m

2y3m

1y3m

 Hypotonia

+

+

+

-

+

-

+

+

+

-

-

+

+

 Seizure

+

-

+

-

-

-

+

-

-

-

-

-

-

 Ventriculomegaly

+

+

+

-

-

-

+

+

-

+

+

+

+

 Polymicrogyria

+

+

+

-

-

-

+

-

-

+

-

+

-

 Cerebellar tonsillar ectopia

-

-

-

-

-

-

-

+

-

+

-

+

-

 White matter abnormalities

+

+

+

-

-

-

-

-

-

+

-

+

-