Individuals with CTNNB1 syndrome are commonly found to have:
• A variable degree of developmental delay/ intellectual disability
• Behavioral problems including autistic features, ADHD, aggression, automutilation and sleep disturbances
• Truncal hypotonia
• Peripheral spasticity
• Microcephaly
• Various eye anomalies including strabismus, refractive errors and familial exudative vitreoretinopathy (FEVR)
Less common findings include:
• Ataxia
• Movement disorders, dystonia being the commonest
• Feeding problems
• Short stature and failure to thrive
Facial features often reported amongst affected individuals include:
• Bulbous nasal tip
• Small alae nasi
• Long and flat philtrum
• Hypotelorism
• Low set ears
• Fair hair and skin color
• Sparse and fine hair
CTNNB1