2q31.1 microdeletion syndrome

Orpha code: 251014OMIM code:

Definition

2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.

Disease data
Classification

Malformation syndrome

Synonyms
Del(2)(q31.1)
Del(2)(q31.1)
Monosomia 2q31.1
Monosomy 2q31.1
ORPHA code
251014
OMIM code
-
ICD10 code
Q93.5
ICD11 code
LD44.20

No additional description.

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