Patients described in this study also show overlapping features with other neurodevelopmental disorders caused by de novo heterozygous variants in other CHD genes, which show intolerance to LOF and missense variants similar to that of CHD5. Pathogenic variants in CHD1 lead to a developmental disorder associated with developmental delay, speech apraxia, autism, hypotonia, and facial dysmorphic features (Pilarowski et al. 2018). The gene discussed is CHDH; the disease is neurodevelopmental disorder.