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2q23.1 microdeletion syndrome

Disease Export to PDF
Name:
2q23.1 microdeletion syndrome
Description:
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.
ORPHAcode:
228402
Synonyms:
Del(2)(q23.1)
Monosomy 2q23.1
Pseudo-Angelman syndrome
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
MBD5
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14