homozygous for c.694T>G/ p.(Phe232Val) |
16 (17; 94%) |
9
(9; 100%) |
Parental consanguinity |
1 (17; 6%) |
0 (7; 0%) |
Family history
- Affected sibling(s) (bi-allelic EIF3F variants)
- Parents with neurological symptoms
|
4 (17; 24%)
2 parents (34; 6%; epilepsy or migraines)
|
2 (9; 22%)
1 parent (14; 7%; mild ID)
|
Gender
female
male
|
15 (68%)
7 (32%)
|
5 (56%)
4 (44%)
|
Average age at last examination in years (median) |
12.1 ± 9.6 (8.5) |
16.3 ± 13.4 (13.0) |
pregnancy/ delivery
eventful pregnancy
premature delivery
perinatal asphyxia
|
1 (21; 5%; oligo-hydramnios)
2 (20; 10%)
1 (19; 5%; suspected)
|
1 (9; 11%; abnormal prenatal scan)
0 (9; 0%)
0 (9; 0%)
|
Development
global developmental delay
speech delay
no speech
regression
|
21 (21; 100%)
21 (21; 100%)
5 (21; 24%)
3 (21; 14%)
|
9 (9, 100%)
n.a.
n.a.
n.a.
|
Feature |
Current study (total no. of indiv. with data;
percent of aff. indiv.) |
Published study (total no. of indiv.
with data; percent of aff. indiv.) (Martin et al., 2018) |
Behavioral problems |
12 (21; 57%) |
6 (9; 33%) |
Hearing loss |
12 (21; 57%) |
3 (9; 33%) |
Muscular hypo-/ hypertonia |
10 (21; 48%) |
(%) |
Ophthalmological findings
hyper-/myopia
strabismus
nystagmus
coloboma
|
8 (21; 38%)
3 (21; 14%)
1 (21; 5%)
1 (21; 5%)
|
1 (9; 11%)
|
Brain imaging
nonspecific findings
|
5 (13; 38%)
|
3 (7; 43%)
|
Sleeping problems |
5 (21; 24%) |
n.a. |
Epilepsy - confirmed |
3 (20; 15%) |
6 (7; 86%) |
Other neurological issues
encephalopathy
meningioma
psychosis
|
1 (21; 5%)
2 (21; 10%)
1 (21; 5%)
|
n.a.
|
Body measurements
microcephaly at birth
short stature at birth
microcephaly later
short stature later
|
4 (10; 40%)
3 (15; 20%)
6 (19; 32%)
8 (20; 40%)
|
0 (1; 0%)
n.a.
1 (8; 13%)
1 (4; 25%)
|
Malformations
cleft lip/ palate (incl. minor form)
|
2 (20; 10%)
|
1 (9; 11%)
|
Gastrointestinal symptoms |
5 (21; 24%) |
n.a. |
Dysmorphisms
fine facial features
findings of nose
posteriorly rotated ears
|
2 (19; 11%)
5 (20; 25%)
7 (20; 35%)
|
n.a.
|
Feature |
Current study (total no. of indiv. with data;
percent of aff. indiv.) |
Published study (total no. of indiv.
with data; percent of aff. indiv.) (Martin et al., 2018) |
Dysmorphisms
deep set or encased nails of fingers and/ or toes
abnormality 5th finger/ toe (shortness,
clinodactyly)
short hands/ feet or slender fingers/ toes
flat feet
|
6 (20; 30%)
3 (20; 15%)
5 (20; 25%)
3 (20; 15%)
|
n.a.
|