Table 2.

Select Features of CTNNB1 Neurodevelopmental Disorder

Feature# of Persons w/Feature / # AssessedComment
DD/ID57/57 (100%)
Speech delay38/39 (97.4%)
Motor delay36/36 (100%)
Autistic features19/41 (46.3%)Incl persons w/poor eye contact & stereotypies
ADHD7/41 (17.1%)
Aggression / self-mutilation18/37 (48.6%)
Sleep disturbances9/26 (34.6%)
Truncal hypotonia39/47 (83%)
Peripheral spasticity43/48 (89.6%)
Dystonia8/37 (21.6%)
Ataxia10/28 (35.7%)
Microcephaly42/52 (80.8%)
Ophthalmologic 1
Exudative vitreoretinopathy9/23 (39.1%)Characterized by peripheral retinal avascularity, neovascularization w/secondary fibrosis, vessel pruning, retinal folds assoc w/exudates & traction complicated by temporal dragging of macula & vessels, retinal holes, & retinal detachment
Strabismus31/56 (55.4%)
Refractive errors 215/56 (26.8%)Incl myopia, hypermetropia, & astigmatism
IUGR10/44 (22.7%)
Short stature8/39 (20.5%)
Feeding difficulties14/35 (40%)
Scoliosis6/30 (20%)

ADHD = attention-deficit/hyperactivity disorder; DD = developmental delay; ID = intellectual disability; IUGR = intrauterine growth restriction


Myopia was detected in three of 56 reported individuals (5.4%) and hypermetropia in 14 of 56 reported individuals (25%).

From: CTNNB1 Neurodevelopmental Disorder

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