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). The gene discussed is FTCD; the disease is combined immunodeficiency due to DOCK8 deficiency.