Our data have revealed several genetic factors associated with either known or rare syndromes that have neurodevelopmental impacts only or have multiple body system effects combining with the nervous system (Birk-Barel syndrome (KCNK9), Temtamy syndrome (C12orf57), Rubinstein-Taybi syndrome 1 (CREBBP), Chediak-Higashi syndrome (LYST), Deafness (TECTA), Cohen syndrome (VPS13B), Escobar syndrome (CHRNG), and Arrhythmogenic right ventricular dysplasia 2 (RYR2)). Here, RYR2 is linked to autosomal recessive multiple pterygium syndrome.