Extended Data Figure 1: Extended pedigrees of consanguineous families demonstrate pathogenicity of select DENND5A variants.

Pedigrees indicate affected (colored in) and unaffected (open) individuals in families carrying the variants a, c.3605delT/p.V1202Afs*52; b, c.623G>A/p.C208Y, c, c.949+1G>A, and d, c.3095G>C/p.R1032T and c.3116C>A/p.T1039N. Participants involved in the phenotypic study are indicated by their ID number, and the age at the time of death is indicated for a deceased individual in (a).