A rare genetic syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features including hypotonia dyskinesia spasticity wide-based gait microcephaly epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features such as joint hyperlaxity skin pigmentary abnormalities and visual impairment have also been reported.
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 September 2026
Newly diagnosed with
X-linked intellectual disability-hypotonia-movement disorder syndrome?
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Advocacy Organizations
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.