Research Article

Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome

Table 1

Demographics and comparison of the SATB2-associated syndrome severity score overall and by age group and sex.

NeurodevelopmentSystemicTotal
Mean (SD) valueMean (SD) valueMean (SD) value

Total16412.19 (4.38)7.44 (2.87)19.63 (6.17)
Age
 3 to 5 years2912.24 (3.73)0.076.86 (2.89)0.2519.10 (5.13)0.07
 6 to 10 years7011.21 (4.97)7.21 (3.10)18.43 (7.05)
 11 to 17 years4113.20 (3.96)8.12 (2.68)21.32 (5.59)
 ≥18 years2413.25 (3.43)7.66 (2.35)20.92 (4.80)
Sex
 Male8612.60 (4.31)0.147.16 (2.75)0.3719.77 (6.12)0.67
 Female7811.73 (4.44)7.75 (2.99)19.49 (6.27)
Molecular
 Null9312.45 (4.28)0.727.71 (2.76)0.3320.16 (5.81)0.44
 Missense4511.82 (4.48)6.93 (2.98)18.76 (6.30)
 Chromosomal2512.32 (4.18)7.56 (3.00)19.88 (6.63)

Abbreviation: SD: standard deviation. One individual with an intronic variant not included.