2p21 microdeletion syndrome
Name: |
2p21 microdeletion syndrome
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Description: |
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.
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ORPHAcode: |
163693
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Synonyms: |
2p21 deletion syndrome
Del(2)(p21)
Monosomy 2p21
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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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