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5q14.3 microdeletion syndrome

Disease Export to PDF
Name:
5q14.3 microdeletion syndrome
Description:
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
ORPHAcode:
228384
Synonyms:
Del(5)(q14.3)
Monosomy 5q14.3
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
MEF2C
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14