Table 3.

Participants’ phenotypic relation to classic Williams-Beuren syndrome or 7q11.23 duplication syndrome.

Participant	Cognitive phenotype	Behavioral phenotype	Medical phenotype
Atyp Del1	Similar pattern of relative strengths and weaknessesa Overall intellectual ability high for WBS but 1 SD below her TD twin	Similar levels of social pragmatic difficulties Similar levels of inattention and hyperactivity Sensitive to loud noises	WBS facies Hyperopia Chronic otitis media Ventricular septal defect Gastroesophageal reflux in infancy
Atyp Del2	Similar pattern of relative strengths and weaknesses Overall intellectual ability ~1.5 SD > WBS mean	Similar levels of social pragmatic difficulties Similar levels of inattention and hyperactivity Sensitive to loud noises	WBS facies Mild supravalvar aortic stenosis Multicystic dysplastic kidney Tremor
Atyp Del3	Different pattern of relative strengths and weaknesses Overall intellectual ability >2 SD above WBS mean	Considerably better social pragmatic skills Inattentive level in average range for TD children Considerably more hyperactive	Does not have WBS facies Microcephaly Difficulty gaining weight Short stature Gastroesophageal reflux Chronic constipation
Atyp Dup1	Speech-Sound Disorder that is not characteristic of Dup7 Developmental delay, most likely due to prematurity	Social pragmatic abilities in average range for TD children Inattentive and hyperactivity levels in average range for TD children	Does not have Dup7 facies Strabismus Joint laxity Hypospadias, cryptorchidism Developmental Coordination Disorder
Atyp Dup2	Speech-Sound Disorder that overlaps with what is typical for Dup7 Overall intellectual ability within typical range for Dup7	Similar levels of social pragmatic difficulties as for Dup7 Inattentive and hyperactivity levels in average range for TD children Social Phobia	Dup7 facies Macrocephaly Hypotonia Sleep disorder High pain tolerance Developmental Coordination Disorder
Atyp Dup3	Speech-Sound Disorder that is characteristic of Dup7 Overall intellectual ability > 2 SD above Dup7 mean	Social pragmatic abilities in average range for TD children Inattentive and hyperactivity levels in average range for TD children	Dup7 facies Hypotonia Chronic constipation

SD standard deviation, TD typically developing.

^aTypically developing twin showed same pattern, so may be familial rather than related to WBS.