More precisely, PTCHD1 gene disruption or truncation causes a recessive X‐linked non‐syndromic neurodevelopmental disorder characterized by variable features of ID, ASD, global developmental delay in their childhood with also infantile hypotonia (especially hypotonic face features), motor incoordination, and sometimes dysmorphic features (Pinto et al., 2010). The gene discussed is PTCHD1; the disease is neurodevelopmental disorder.