The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.
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hypotonia-cystinuria syndrome
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chromosome 2p16.3 deletion syndrome
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2p13.2 microdeletion syndrome
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2p21 microdeletion syndrome without cystinuria
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