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). Here, TMLHE is linked to formiminoglutamic aciduria.