Adenylate succinase deficiency	Myotonic dystrophy
Angelman and Prader-Willi syndromes (AS–maternal or PWS–paternal 15q11-q13 deletions)	Neurofibromatosis
Apert syndrome	Noonan syndrome
15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome	Oculo-auriculo-vertebral spectrum
CHARGE syndrome	Phelan-McDermid syndrome (22q13 deletion)
Chromosome 15 duplications (maternal origin)	PTEN gene associated disorders with extreme macrocephaly (Cowden/Bannayan-Riley-Ruvalcaba syndrome)
Chromosome 16p11.2 deletions	Rett syndrome (MECP2 gene)
Cohen syndrome	Shprinzten/velo-cardio-facial/DiGeorge (22q11 deletion)
De Lange syndrome	Smith-Lemli-Opitz syndrome
Down syndrome	Smith-Magenis syndrome (17p11.2 deletion)
Duchenne muscular dystrophy	Sotos syndrome
Fragile X syndrome (FMR1 gene)	Tuberous sclerosis
Hypomelanosis of Ito	Turner syndrome
Joubert syndrome	Untreated or poorly treated phenylketonuria (PKU)
Mitochondrial dysfunction	Williams syndrome
Moebius sequence
Modified from G.B. Schaefer and N.J. Mendelsohn, “Genetics evaluation for the etiologic diagnosis of autism spectrum disorders,” Genetics in Medicine, vol. 10, pp 4–12, 2008 [25] and from M.G. Butler and others, “Assessment and treatment in autism spectrum disorders: A focus on genetics and psychiatry”, Autism Research and Treatment, vol. 2012, 242537, 2012 [30].