Synonyms: CTNNB1 syndrome
A rare genetic syndromic intellectual disability disorder characterized by intellectual disability significant motor delay severe speech impairment early-onset truncal hypotonia with progressive distal hypertonia/spasticity microcephaly and behavioral anomalies (autistic features aggression or auto-aggressive behavior sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi long and/or flat philtrum thin upper lip vermillion. Visual impairment (strabismus hyperopia myopia) is commonly associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version August 2026
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Severe intellectual disability-progressive spastic diplegia syndrome?
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Advocacy Organizations
CTNNB1 Foundation
CTNNB1 Foundation is a non-profit organization dedicated to improving the lives of individuals with CTNNB1 syndrome by advancing research, accelerating the development of disease-modifying therapies, leading international natural history studies and clinical trials, and providing education, advocacy, and support to affected families worldwide.
CTNNB1 – Advancing CTNNB1 Cures and Treatments
To fund research to develop safe and effective therapeutics to treat CTNNB1 syndrome while raising awareness and unifying our patient population
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
ReNU2 Foundation
ReNU2 Foundation supports families affected by RNU2-2-related neurodevelopmental disease. We foster collaboration, raise awareness, and advance research—pursuing a world where every family has testing, informed care, community, and treatment.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.