Figure legends
Figure 1: Pedigrees of 17 families with EIF3F-related
NDD. All parents, but the ones of P16 were identified as heterozygous
carriers of EIF3F variants. P3 is the family with the compound
heterozygous individual. P: pedigree. † : individual with an
additional, de novo MECP2 variant. Abbreviations: DD:
developmental delay; P: pedigree.
Figure 2: Frontal and lateral facial profiles of six affected
individuals carrying bi-allelic EIF3F variants. A,B represent P3
at 5y, C P5 at 4m and D,E P5 at 4y 3m, F,G show P9 at 13y and at 17y,
respectively, H, I P12 at 2y 8m, J,K P13 at 3y 2m and L, M P15 at 6y 8m.
All affected individuals have fairly even palpebral fissures, a pointed
nasal tip which is rather prominent for age at lateral view. Note nasal
fistula and groove at left lip in P5 before surgery (C), and after
correction (D).
Figure 3: Hands and feet of four affected individuals carrying
bi-allelic EIF3F variants. A-D represent P3 at 5y, E-I P5 at 4y
3m, J, K P12 at 2y 8m, and L, M P13 at 3y 2m. Some affected individuals
have puffy backs of hands and feet; most individuals have encased nails
(= nails embedded by skin), predominantly of the finger nails and short
toe nails.