We cannot exclude the possibility that these missense variants might impact potential protein interaction sites without altering PTCHD1 expression at the membrane, similarly to what was described for the C‐terminal intracellular tail (Ung et al., 2018), as well as for other synaptic proteins involved in NDD (Grant, 2019; Zhang‐James et al., 2019). The gene discussed is PTCHD1; the disease is Neurodevelopmental delay.