Synonyms: Autosomal recessive spinocerebellar ataxia type 20 | Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome | SCAR20
A rare genetic central nervous system malformation syndrome characterized by early-onset progressive severe cerebellar ataxia associated with progressive moderate to severe intellectual disability global developmental delay progressively coarsening facial features relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.
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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Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome?
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Advocacy Organizations
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.