A rare genetic intellectual disability malformation syndrome characterized by global developmental delay intellectual disability delayed speech and language development epilepsy autistic behavior and moderate facial dysmorphism (including elongated face narrow forehead arched eyebrows horizontal palpebral fissures hypertelorism epicanthus midface flattening short nose long and featureless philtrum thin upper lip macrostomia and prominent chin). Additional variable manifestations include microcephaly hypotonia hypertrichosis and strabismus.
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 June 2026
Newly diagnosed with
9q21.13 microdeletion syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
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.