9q31.1q31.3 microdeletion syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
9q31.1q31.3 microdeletion syndrome?
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