17q23.1q23.2 microdeletion syndrome

Orpha code: 261279OMIM code: 613355

Definition

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

Disease data
Classification

Malformation syndrome

Synonyms
Del(17)(q23.1q23.2)
Del(17)(q23.1q23.2)
Monosomia 17q23.1q23.2
Monosomia 17q23.1-q23.2
Zespół mikrodelecji 17q23.1-q23.2
Monosomy 17q23.1q23.2
ORPHA code
261279
OMIM code
613355
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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