17q23.1q23.2 microdeletion syndrome

Disease Export to PDF
Name:
17q23.1q23.2 microdeletion syndrome
Description:
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
ORPHAcode:
261279
Synonyms:
Del(17)(q23.1q23.2)
Monosomy 17q23.1q23.2
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14