Clinical Guidance
CTNNB1 neurodevelopmental disorder (CTNNB1-NDD) is characterized in all individuals by mild-to-profound cognitive impairment and in some individuals by exudative vitreoretinopathy. Exudative vitreoretinopathy, observed in up to 39% of reported individuals, is often diagnosed in early childhood and may present in infancy in those with significantly compromised vision . Other common findings include truncal hypotonia, peripheral spasticity, dystonia, behavior problems, microcephaly, and refractive errors and/or strabismus. Less common features include intrauterine growth restriction, feeding difficulties, and scoliosis. To date, at least 57 individuals have been identified with a pathogenic variant in CTNNB1 [, , , , , , , , , , , , , , , ]. The following description of the phenotypic features associated with CTNNB1-NDD is based on reports that included sufficient phenotypic information. (Note: Information on three individuals heterozygous for a pathogenic variant in a gene in addition to CTNNB1 are not included in or in the following discussion.) Table 2. Select Features of CTNNB1 Neurodevelopmental Disorder
Feature | # of Persons w/Feature / # Assessed | Comment |
|---|
Neurodevelopmental DD/ID | |
