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)
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.