Karyotype, subtelomeric fluorescent in situ hybridization (FISH), kit MLPA panel studying recurrent genomic disorders (SALSA® P245-B1), chromosomal microarray, and testing for fragile X, MECP2/FOXG1 genes, Angelman syndrome, Pitt-Hopkins syndrome, mucopolysaccharidoses, and congenital disorders of glycosylation, yielded normal results. The gene discussed is FOXG1; the disease is Pitt-Hopkins syndrome.