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Table 5 Comorbidities and birth characteristics of probands with potentially damaging CNV or SNV

From: Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder

Phenotypes WES probands
with pdSNV (n = 69)
ASC102 list
n (%)
CMA probands with pdCNV (n = 105)
n (%)
WES and CMA probands with pdCNV or pdSNV (n = 123)
AS102 list
n (%)
HC—large1 4 (6%) 4 (4%) 6 (5%)
HC—small2 4 (6%) 13 (12%) 14 (11%)
Large for gestational age3 0 (0%) 2 (2%) 1 (1%)
Small for gestational age4 0 (0%) 7 (7%) 5 (4%)
Congenital anomalies 3 (4%) 18 (17%) 15 (12%)
Motor function disorders 2 (3%) 8 (8%) 7 (6%)
Scholastic skill disorders 11 (16%) 25 (24%) 27 (22%)
Speech/language disorders 7 (10%) 18 (17%) 16 (13%)
ADHD 11 (16%) 23 (22%) 25 (20%)
Anxiety disorder 1 (1%) 2 (2%) 2 (2%)
Epilepsy 30 (43%) 34 (32%) 49 (40%)
Intellectual disability 47 (68%) 58 (55%) 75 (61%)
OCD 3 (4%) 8 (8%) 8 (7%)
Psychotic disorders 4 (6%) 12 (11%) 14 (11%)
  1. ADHD attention-deficit/hyperactivity disorder, OCD obsessive–compulsive disorder, pdCNV potentially damaging copy number variation, pdSNV potentially damaging single nucleotide variation
  2. 1HC-large if head circumference was > 38 cm. 2HC-small if head circumference was < 32 cm. 3Large for gestational age was defined as birth weight > 2 SD using the Swedish growth charts. 4Small for gestational age was defined as birth weight < 2 SD using Swedish growth charts. Missing values for congenital anomalies (CMA Probands/WES Probands) 335/260, large for gestational age 206/139, small for gestational age 206/139, HC-large 219/153, HC-small 219/153 individuals