N

Gender

Initial Symptoms

Age at diagnosis (months)

Age at onset of ERT (months)

GAA mutations

Previous family history

CRIM Status*

Intercurrences and Comorbidities

Death/ Current age**

Allele 1

Allele 2

1

F

HC, MDI

2

2

c.2560 C > T p.R854X

c.2481 + 102_2646 + 31del

Yes

Positive

PMT, PNM, right tibia fracture osteopenia, visual and hearing impairment; distended bladder; kyphoscoliosis, palpebral ptosis

8y 3m

2

F

macroglossia, hypotonia and MW, SDI, MDI, RI

3

4

c.1504 A > G p.Met502Val

Normal (MLPA# not performed)

No

Positive

coxofemoral dysplasia; lordosis and scoliosis; hidde bifid spine; PNM

6y

3

M

HC, macroglossia, hypotonia and MW, SDI, MDI, RI, hepatomegaly

36

37

c.1408_1410 del p.N470del

c.1556T > C; p.M519T

No

Positive

PNM; kyphoscoliosis

5y 6m

4

F

HC, macroglossia, hypotonia and MW, SDI, MDI, RI, hepatomegaly

21

23

c.692 + 2T > C

c.692 + 2T > C

No

Positive

PNM

4y 3m

5

M

HC, macroglossia, hypotonia and MW, SDI, MDI, RI

4

5

c. 2560 C > T p.R854

c.2501_2502 del CA p.T834 Rfs49

No

Negative

CA, cerebral atrophy, PNM, convulsions, cognitive impairment

3y 7m

6

M

HC, macroglossia, SDI, MDI, RI

5

7

c.1941C > G p.C647W

c.2501_2502 del CA p.T834 Rfs49

No

Positive+

CA, PNM, scoliosis

3y 1m

7

M

HC, macroglossia, hypotonia and MW, MDI, RI, hepatomegaly

8

8

c.2560 C > T p.R854

c.236_246del11bp p.P79Rfs*13

No

Positive

CA

†2y 6m

8

M

HC, macroglossia, hypotonia and MW, MDI, hepatomegaly

1

4

c.1941C > G (p.Cys647Trp)

c.1941C > G (p.Cys647Trp)

No

Positive

PNM, kyphoscoliosis

2y

9

M

HC, hypotonia and MW, MDI, RI, hepatomegaly

4

5

C 2560 C > T p.R854

C 2560 C > T p.R854

Yes

Negative

convulsions, PNM

†1y 1m

10

M

HC, macroglossia, hypotonia and MW, SDI, MDI

5

8

c.2560C > T

(p.Arg854)

c.1912G > T

(p.Gly638Trp)

No

Positive+

PMT, PNA

†9m