Table 3 Clinical features of all published cases associated with biallelic MBOAT7 variants

Sex

M = 4, F = 3

M = 7, F = 9

M = 3, F = 0

M = 2, F = 2

M = 5, F = 7

M = 0, F = 1

M = 21, F = 22

Consanguinity

7/7 (100%)

16/16 (100%)

3/3 (100%)

4/4 (100%)

12/12 (100%)

0/1 (0%)

42/43 (98%)

 Developmental delay

7/7 (100%)

16/16 (100%)

0/3 (0%)

4/4 (100%)

12/12 (100%)

1/1 (100%)

40/43 (93%)

 Speech delay

7/7 (100%)

16/16 (100%)

0/3 (0%)

4/4 (100%)

12/12 (100%)

1/1 (100%)

40/43 (93%)

 Non-verbal

5/7 (71%)

9/16 (56%)

0/3 (0%)

N/K

N/K

0/1 (0%)

14/27 (52%)

 Single words

2/7 (29%)

7/16 (44%)

N/K

N/K

N/K

1/1 (100%)

10/24 (42%)

 Two word sentences

0/7 (0%)

2/16 (13%)

N/K

N/K

3/12 (25%)

1/1 (100%)

6/36 (17%)

 Motor delay

7/7 (100%)

16/16 (100%)

0/3 (0%)

N/K

12/12 (100%)

1/1 (100%)

36/39 (92%)

 Never walked

0/7 (0%)

3/16 (19%)

0/3 (0%)

N/K

0/12 (0%)

0/1 (0%)

3/39 (8%)

 Intellectual disability

7/7 (100%)

16/16 (100%)

3/3 (100%)

4/4 (100%)

12/12 (100%)

1/1 (100%)

43/43 (100%)

 Lower than average OFC

7/7 (100%)

16/16 (100%)

0/3 (0%)

4/4 (100%)

N/K

0/1 (0%)

27/31 (87%)

 Microcephaly

2/7 (29%)

6/16 (38%)

0/3 (0%)

2/4 (50%)

N/K

0/1 (0%)

10/31 (32%)

 Macrocephaly

0/7 (0%)

0/16 (0%)

0/3 (0%)

0/4 (0%)

0/7 (0%)

1/1 (100%)

1/43 (2%)

 Seizures

6/7 (86%)

10/16 (63%)

3/3 (100%)

N/K

11/12 (92%)

1/1 (100%)

31/39 (79%)

 Generalised tonic clonic

0/7 (0%)

1/16 (6%)

N/K

N/K

2/12 (17%)

0/1 (0%)

3/36 (8%)

 Myoclonic/infantile spasm

0/7 (0%)

5/16 (31%)

N/K

N/K

3/12 (25%)

0/1 (0%)

8/36 (22%)

 Focal

2/7 (29%)

2/16 (13%)

N/K

N/K

1/12 (8%)

1/1 (100%)

6/36 (17%)

 Febrile seizures

2/7 (29%)

2/16 (13%)

N/K

N/K

1/12 (8%)

0/1 (0%)

5/36 (14%)

 Hypotonia

6/7 (86%)

15/16 (94%)

N/K

N/K

12/12 (100%)

1/1 (100%)

34/36 (94%)

 Hypertonia

0/7 (0%)

16/16 (100%)

N/K

N/K

0/12 (0%)

0/1 (0%)

16/36 (44%)

 Behavioural problems/ASD

3/7 (43%)

7/16 (44%)

3/3 (100%)

N/K

4/12 (33%)

1/1 (100%)

18/39 (46%)

 Poor coordination/ataxic gait

0/7 (0%)

0/16 (0%)

N/K

N/K

11/12 (92%)

N/K

11/35 (31%)

Neuroimaging

1/7 (14%)

6/16 (38%)

1/3 (33%)

N/K

12/12 (100%)

1/1 (100%)

21/39 (54%)

Polymicrogyria

0/1 (0%)

2/6 (13%)

0/3 (0%)

N/K

0/12 (0%)

0/1 (0%)

2/23 (9%)

Cortical atrophy

1/1 (100%)

2/6 (13%)

0/3 (0%)

N/K

8/12 (67%)

0/1 (0%)

11/23 (45%)

Cerebellar dysgenesis

0/1 (0%)

0/6 (0%)

0/3 (0%)

N/K

8/12 (67%)

0/1 (0%)

8/23 (35%)

Leukoencepahlopathy

0/1 (0%)

0/6 (0%)

1/1 (100%)

N/K

0/12 (0%)

1/1 (100%)

2/21 (10%)

 Strabismus

N/K

N/K

1/3 (33%)

N/K

5/12 (42%)

1/1 (100%)

7/16 (44%)

 Retinal/macular degeneration

0/12 (0%)

N/K

2/3 (67%)

N/K

N/K

0/1 (0%)

2/16 (13%)

 Optic atrophy

0/12 (0%)

N/K

3/3 (100%)

N/K

N/K

0/1 (0%)

3/16 (19%)

 Hyperphagia/obesity

0/12 (0%)

N/K

3/3 (100%)

N/K

N/K

1/1 (100%)

4/16 (25%)

 Short stature

3/7 (43%)

N/K

0/3 (0%)

N/K

N/K

0/1 (0%)

3/11 (27%)