CHD1L

This gene encodes an ATP-dependent chromatin remodeler that recognizes poly-ADP-ribosylated histones at DNA damage sites and catalyzes nucleosome sliding to facilitate DNA repair. Mutations cause autosomal dominant intellectual disability with epilepsy and characteristic dysmorphic features, typically presenting in early childhood. The gene is not highly constrained against loss-of-function variants, and clinical presentations can include developmental delay, seizures, and craniofacial abnormalities.