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Table 1 Selected clinical characteristics and mutational status of several individuals in the multiplex ASD pedigree

From: Cellular and molecular characterization of multiplex autism in human induced pluripotent stem cell-derived neurons

Clinical characteristicAPISUM
Age of ASD diagnostic confirmation3.5 years18 yearsN/A
Social responsiveness scale-283 T72 T56 T (spouse-report)
Depression and anxietyYesYesNo
Seizure historyNoNoNo
Developmental delayYesNoNo
Eye contactPoorFairGood
Repetitive behaviorYesNoNo
Abnormal sensory sensitivitiesYesNoNo
IQ65102 (Raven)108 (Raven)
Speech delayYesNoNo
ASDSevereModerateNo
Intellectual disabilityYesNoNo
Mutation locationGPD2GPD2GPD2
chr2:157352686 (hg19) G>Achr2:157352686 (hg19) G>Achr2:157352686 (hg19) G>A
p.G78E, c.233G>Ap.G78E, c.233G > Ap.G78E, c.233G>A