2q23.1 microdeletion syndrome

Orpha code: 228402OMIM code: 156200

Definition

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

Disease data
Classification

Malformation syndrome

Synonyms
Del(2)(q23.1)
Del(2)(q23.1)
Monosomia 2q23.1
Rzekomy zespół Angelmana
Monosomy 2q23.1
Pseudo-Angelman syndrome
ORPHA code
228402
OMIM code
156200
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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