Table 2 Genotype/Phenotype correlation for patients (n = 39) with available data

1

c.1586C>T

p.Thr529Met^#2

c.1586C>T

p.Thr529Met^#2

4

Feeding difficulty; Irritability

2

g.30Kbdel

c.1158del10

p.Met387Phefs*?

0

Irritability

3

g.30Kbdel

c.622-1G>T

Missplicing

NA

Asymptomatic

4

c.242_243dupGA

p.Ile82Argfs*?

c.1700A>C

p.Tyr567Ser^#1

4

Developmental delay; Spasticity

5

c.379 C>T

p.Arg127*

c.864G>A

p. Trp288*

4

Spasticity; Feeding difficulty; Irritability

6

g.30Kbdel

g.30Kbdel

3

Feeding difficulty

7

g.30Kbdel

c.430delA

p.Ile144Leufs*?

3

Spasticity; Feeding difficulty

8

c.628A>T

p.Arg210*

c.1895T>C

p.Leu632Pro^#1

3.5

Spasticity; Feeding difficulty; Irritability

9

c.884A>T

p.Asn295Ile^#1

c.884A>T

p.Asn295Ile^#1

1

Feeding difficulty

10

g.30Kbdel

c.544G>A

p.Glu198Lys

4

Irritability

11

g.30Kbdel

c.658C>T

p.Arg220*^#1

1.5

Feeding difficulty; Irritability; Reflux

12

c.749T>C

p.Ile250Thr

c.1586C>T

p.Thr529Met

4

Feeding difficulty; Reflux

13

c.1884delA

p.Lys628Asnfs*7^#2

g.5.78 Mb del

3

Feeding difficulty; Irritability; Reflux

14

c.155delG

p.Gly52Alafs*?

c.155delG

p.Gly52Alafs*?

3

Feeding difficulty; Irritability; Reflux

15

g.30Kbdel

c.620delA

p.Lys191fs*?

2.5

Feeding difficulty; Developmental delay

16

c.430delA

p.Ile144Leufs*?

c.628A>T

p.Arg210*

5

Spasticity; Irritability; Constipation

17

g.30Kbdel

c.1657G>A

p.Gly553Arg

4

Spasticity; Irritability; Developmental delay

18

g.30Kbdel

g.30Kbdel

2

Irritability; Developmental delay; Poor weight gain; Spasms

19

c.583-6T>A^#1

Missplicing

g.7.4Kbdel^#1

5

Feeding difficulty; Developmental delay; Hypotonia

20

c.2056T>C

p.*686Glnext*42^#1

c.430DelA

p.Ile144Leufs*?^#1

3

Developmental delay

21

c.316G>A

p.Gly106Arg

c.521delA

p.Tyr158Leufs*3

4

Irritability

22

c.967G>T

p.Gly323Trp

c.1472delA

p.Lys491Argfs*62

4

Irritability; Reflux

23

c.489G>A

p.Trp163*^#1

c.489G>T

p.Trp163Cys^#1

5

Spasticity; Irritability; Developmental Delay

24

c.387C>G

p.Tyr129*

c.1814dupA

p.Tyr605fs*1

5

Spasticity; Developmental delay

25

c.533G>A

p.Trp178*^#1

c.1468T>A

p.Tyr490Asn^#1

NA

Asymptomatic

26

g.30Kbdel

c.674C>A

p.Ala225Glu

NA

Asymptomatic

27

g.30Kbdel

g.30Kbdel

3

Feeding difficulty; Hypotonia

28

g.30Kbdel

c.1004A>G

p.Tyr335Cys^#1

3

Feeding difficulty; Spasticity

29

g.30Kbdel

c.1004A>G

p.Tyr335Cys^#1

4

Spasticity; Irritability; Developmental Delay; Hypotonia

30

g.30Kbdel

c.490C>A

p.Pro164Thr

5

Spasticity; Developmental delay

31

g.30Kbdel

g.30Kbdel

4

Spasticity; Developmental delay

32

c.1700A>C

p.Tyr567Ser^#1

c.1158del10

p.Met387Phefs*?

2

Reflux

33

g.30Kbdel

c.1543G>A

p.Glu515Lys^#1

5

Irritability; Reflux

34

c.764C>A

p.Pro255His^#1

c.1591C>T

p.Arg531Cys^#1

1

Spasticity

35

g.30Kbdel

c.1004A>G

p.Tyr335Cys^#1

5

Feeding difficulty; Spasticity; Developmental delay

36

g.30Kbdel

g.30Kbdel

5

Spasticity; Irritability

37

g.30Kbdel

g.30Kbdel

5

Feeding difficulty; Developmental delay

38

g.30Kbdel

c.1766dupA

p.Tyr605fs*1^#1

4

Developmental delay; Hypotonia

39

c.869G>A

p.Arg290His

c.1480T>C

p.Phe494Leu

4

Development delay: irritability