Extended Data Fig. 1. Pedigrees segregating possibly pathogenic PHGDH variants.

Three variants, given for each group, were analyzed for segregation with the disease in 5 families. The specific number, age, and result of genetic analysis is given for all family members who were available for clinical and genetic analyses. Filled, black symbols represent affected individuals, white symbols define unaffected family members and grey symbols depict family members with ambiguous diagnoses (maybe or maybe not affected). Ages of family members at the time of recruitment, when clinical diagnosis was determined, are given below each symbol. Wt, wild type allele; mut, the allele with the specific PHGDH variant.