FANCD2 and formiminoglutamic aciduria: These genes are linked with a range of X-linked and autosomal disorders, e.g., TMLHE (X-linked Autism), CDKL5 (Developmental Encephalopathy), FANCD2 (Fanconi anaemia), FLT4 (congenital heart defects), FTCD (Glutamate formiminotransferase deficiency), and DOCK8 (DOCK8 immunodeficiency syndrome) (Fig. 5B, S7E, Table S2).