2q23.1 microdeletion syndrome
Name: |
2q23.1 microdeletion syndrome
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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.
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ORPHAcode: |
228402
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Synonyms: |
Del(2)(q23.1)
Monosomy 2q23.1
Pseudo-Angelman syndrome
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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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