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Table 3 IQ, BAPQ, and physical examination information of parents with CHD8 LGD mutations and the affected offspring

From: Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Sample ID Mutation Sex Age WAIS/WISC BAPQ HC (Z-score) Height Weight BMI
Verbal Nonverbal Full-scale Aloof Pragmatic Rigid Overall
GX0347.p1 p.R1935* M 62 M 31 26 21 52.5(1.15) 126.2 25 15.6
GX0347.mo p.R1935* F 29 Y 88 75 80 3 2.79 3.54 3.11 57.3(2.48) 161.7 67.5 25.8
GX0540.p1 p.N855Tfs*14 F 163 M 36 58.5(3.58) 161.5 84 32.2
GX0540.fa p.N855Tfs*14 M 42 Y 95 79 87 2.88 3.21 3.88 3.32 58.7(1.53) 167.8 71 25.22
HN0277.p1 p.E2011Dfs*32 F 59 M 53(2.26) 112 20 15.9
HN0277.mo p.E2011Dfs*32 F 26 Y 88 75 80 2.79 2.88 3.92 3.19
  1. M months, Y years, WAIS Wechsler Adult Intelligence Scale, WISC Wechsler Intelligence Scale for Children, BAPQ Broad Autism Phenotype Questionnaire