Fig. 1. Spectrum of CSDE1 LGD variants and patient facial features.

(A) Diagram of the canonical CSDE1 isoform (NM_001242891.1 and NP_001229820.1). The locations of LGD variants are indicated. (B) Pedigrees of eight families with de novo LGD variants (above) and eight families with transmitted LGD variants (below). Carrier parents or sibling in at least four families (PU2, BU2, SU1, and PU1) are affected or show substantial family history.