9q31.1q31.3 microdeletion syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Del(9)(q31.1q31.3) | Monosomy 9q31.1q31.3

9q31.1q31.3 microdeletion syndrome is a rare genetic syndromic intellectual disability characterized by mild intellectual disability short stature with high body mass index short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome including type 2 diabetes hypercholesterolemia and hypertension has 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 June 2024

Newly diagnosed with
9q31.1q31.3 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

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.