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9q31.1q31.3 microdeletion syndrome
Disease definition
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.
ORPHA:401923
Classification level: Disorder- Synonym(s):
- Del(9)(q31.1q31.3)
- Monosomy 9q31.1q31.3
- Prevalence: <1 / 1 000 000
- Inheritance: Unknown
- Age of onset: Neonatal
- ICD-10: Q93.5
- OMIM: -
- UMLS: C4750910
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()
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