Supplementary Table 3: Clinical information of subjects with validated CNVs from Discussion section. Diagnosis was made according to DMSIV categories, except for the category high-functioning autism, which is a category from DSM-V.

Subject ID / CNV reported / Year of Birth / Gender / Diagnosis / Cognition / Co-morbidities/additional features / Family comorbidities/additional information
A2 / Loss: 15q13.3/ OTUD7A, CHRNA7 / 1991 / M / Early infantile autism / ci (IQ<60) / ADHD / Sister: ci
A21 / Gain: 2q13/ MALL, NPHP1 / 1998 / M / Atypical autism / ci (IQ<60) / microcephaly / −
A23 / Loss: 11p14.1/ BDNFOS / 2004 / F / Early infantile autism / ci / − / Father autistic
A27 / Gain: 9p24.3/ DOCK8 / 1995 / M / Atypical autism / ci (IQ 60-80) / horseshoe kidney, hypermetropia +5dpt / Brother has ADHD
A38 / Loss: 22q11.21/ CLTCL1 / 2000 / F / High functioning autism / normal IQ (IQ 91) / − / −
A50 / Gain: 7q11.22/ AUTS2 / 1995 / M / Atypical autism / ci (IQ 60) / − / Father: suicide
A62 / Loss: 2p25.1/ HPCAL1; C2orf48 / 1996 / M / Asperger Syndrome / high-normal IQ / Gender identity/transgender / −
A67 / Gain: 16q12.1/ C16orf78,ZNF423 / 1988 / F / Early infantile autism / High functioning autism / ci (IQ 60-80) / speech present; obesity (BMI 28.7) / −
A83 / Gain: 6q15/ SLC35A1,RARS2 / 2005 / M / Asperger Syndrome / normal IQ / − / −
A136 / Loss: 16p11.2/ SH2B1 / 2004 / F / Asperger Syndrome / normal IQ / ADHD / −
A144 / Gain: 18q23/ C18orf22 / 1984 / M / Asperger Syndrome / low-normal IQ / psychosis, obesity (BMI 26.3) / −
A150 / Gain: Xp22.11-p21.3/ ARX etc. / 1990 / M / Atypical autism / normal IQ / absence epilepsy / −
A153 / Gain: 18q23/ C18orf22 / 1995 / M / Early infantile autism / ci / n.d. / n.d.
A161 / Gain: 19p13.2/ ZNF700 / 1989 / M / Asperger Syndrome / normal IQ / − / −
A182 / Loss: 14q23.3/ GPHN / 1997 / F / High functioning autism / ci (IQ 60-80) / − / n.d.
A187 / Gain: 2p23.3/DTNB / 2000 / M / Asperger Syndrome / normal IQ / n.d. / −
A194 / Gain: 1q32.1/ BTG2; KLHL12 / 1988 / M / Early infantile autism / ci (IQ 60-80) / − / −
A207 / Gain: Xp11.4/ TSPAN7 / 1992 / M / Early infantile autism / ci (IQ 60-80) / st.p. pre-term birth (week 26), spastic diplegia, central sight disorder / −
A210 / Gain: 7q36.2/ DPP6 / 2004 / M / Asperger Syndrome / normal IQ / − / mother and brother show autistic features (DNA for brother not available)
A217 / Gain: 1q24.3/ DNM3
Gain: 17p12/ ARHGAP44 etc. / 2004 / M / High functioning autism / normal IQ / − / −
A244 / Gain: 10q21.3/ LRRTM3,CTNNA3 / 2002 / M / High functioning autism / Asperger Syndrome / normal IQ / tic (vocal and motor) / −

Note: ci = cognitive impairment; IQ-range is estimated according to school type attended; in A38 and A50 IQ was measured by use of standard methods; n.d. = not determined; − = negative; ADHD = attention deficit hyperactivity disorder