Pathogenic heterozygous loss of function variants in CTNNB1 are associated with CTNNB1 neurodevelopmental disorder. We report the clinical phenotype of individuals with CTNNB1 neurodevelopmental disorder using both caregiver-reported data (medical history, adaptive function, quality of life, and behavior issues) and in-person clinical assessments (neurological, motor, and cognitive function) in 32 individuals with likely pathogenic or pathogenic CTNNB1 variants. Most individuals had truncal hypotonia, muscle weakness, hypertonia, dystonia, microcephaly, and many had a history of tethered cord. Visual problems included strabismus, hyperopia, and familial exudative vitreoretinopathy. Half of individuals walked without an assistive device. The mean Gross Motor Functional Measure-66 score was 56.6 (SD = 14.8). Average time to complete Nine-Hole Peg Test was slower than norms. Mean general conceptual ability composite scores from Differential Ability Scales Second Edition were very low (M = 58.3, SD = 11.3). Fifty-five percent of individuals had low adaptive functioning based on the Vineland Adaptive Behavioral Scales. Based upon the Child Behavior Checklist total problems score, the majority (65%) of individuals had behavioral challenges. The mean overall Quality of Life Inventory-Disability score was 81.7 (SD = 11.9). These data provide a detailed characterization of clinical features in individuals with CTNNB1 neurodevelopmental disorder.

中文翻译：

---

CTNNB1神经发育障碍的临床表型谱

CTNNB1的致病性杂合性功能缺失变异与CTNNB1神经发育障碍相关。我们使用护理人员报告的数据（病史、适应功能、生活质量和行为问题）和 32 名个体的现场临床评估（神经功能、运动功能和认知功能）来报告CTNNB1神经发育障碍患者的临床表型具有可能的致病性或致病性CTNNB1变异。大多数人患有躯干肌张力低下、肌无力、肌张力亢进、肌张力障碍、小头畸形，许多人有脊髓栓系史。视力问题包括斜视、远视和家族性渗出性玻璃体视网膜病变。一半的人在没有辅助设备的情况下行走。粗大运动功能测量 66 的平均得分为 56.6 (SD = 14.8)。完成九孔钉测试的平均时间比正常情况要慢。差异能力量表第二版的平均一般概念能力综合得分非常低（M  = 58.3，SD = 11.3）。根据瓦恩兰适应性行为量表，百分之五十五的人适应性功能较低。根据儿童行为检查表的总问题评分，大多数（65%）的人都存在行为挑战。生活质量量表-残疾的平均总体得分为 81.7 (SD = 11.9)。这些数据提供了CTNNB1神经发育障碍患者临床特征的详细特征。