6q16 microdeletion syndrome
Name: |
6q16 microdeletion syndrome
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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.
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ORPHAcode: |
171829
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Synonyms: |
Del(6)(q16)
Monosomy 6q16
Prader-Willi-like syndrome due to microdeletion 6q16
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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