9q21.13 microdeletion syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 July 2024

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.

Get Concierge Help

Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.