Using TGex software (LifeMap Sciences, United States), 9 candidate variants in 9 genes (UBAP2L, CUX2, CACNA1I, SAMD12, HERC2, IQSEC1, NFASC, RERE, PLAA) were mapped to known phenotypes including seizures, intellectual disability, developmental delay, motor delay, language delay and autistic behaviour. This evidence concerns the gene RERE and Global developmental delay.