Table 2 Patients that underwent liver ultrasound or transient elastography

1

PMM2

1

Coarse liver parenchyma

F0 (3.8 kPa)

2

PMM2

1

Coarse liver parenchyma

–

3

PMM2

1

Steatosis^a

–

6

PMM2

4

Coarse liver parenchyma

–

7

PMM2

5

Coarse liver parenchyma

–

8

PMM2

6

Central intrahepatic bile duct dilation, otherwise normal

F2 (8.4 kPa)

9

PMM2

6

Normal

–

11

PMM2

1

Normal

–

12

PMM2

5

Hemangioma, otherwise normal

F1 (7.3 kPa)

14

PMM2

6

“Starry sky” parenchyma

–

15

PMM2

10

Normal

–

17

PMM2

15

Steatosis

19

PMM2

28

Coarse liver parenchyma

–

22

ALG13

1

Geographic steatosis

–

23

ALG13

4

Multiple well-circumscribed echogenic lesions

–

25

DHDDS

63

Normal

–

27

PGM1

2

Increased echogenicity

28

SLC35A2

4 days

Normal

–

31

ALG8

6

Steatosis

–

33

MPI

–

–

F2 (8.0 kPa)

34

CCDC115

2

Mildly increased echogenicity

–

37

SLC39A8

2

Coarse liver parenchyma

–

38

TMEM165

12

Normal

–

39

VMA21

34

Normal

–