Figure 1.

Identification of individuals with neurodevelopmental phenotypes with SNVs in OGDHL

(A) Eight pedigrees drawings, indicating bi-allelic variants in OGDHL identified in nine individuals from eight families. Homozygous missense variants were identified in families 1, 5, and 7, a homozygous frameshift variant in family 6, a homozygous stop-gain variant in family 8, and compound heterozygous variants in families 2, 3, and 4.

(B) Multiple-sequence alignment confirms evolutionary conservation of the eight missense variants in the animal kingdom.