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6q16 microdeletion syndrome

Disease Export to PDF
Name:
6q16 microdeletion syndrome
Description:
A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.
ORPHAcode:
171829
Synonyms:
Del(6)(q16)
Monosomy 6q16
Prader-Willi-like syndrome due to microdeletion 6q16
XREF(s):
Orphanet
Analyte(s):
SIM1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14