9q31.1q31.3 microdeletion syndrome

Orpha code: 401923OMIM code:

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.

Disease data
Classification

Malformation syndrome

Synonyms
Del(9)(q31.1q31.3)
Del(9)(q31.1q31.3)
Monosomia 9q31.1q31.3
Monosomy 9q31.1q31.3
ORPHA code
401923
OMIM code
-
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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