2p21 deletion syndrome: This syndrome is a more severe form hypotonia-cystinuria syndrome as a larger portion of genetic material from chromosome 2p21 is deleted. It is characterized by infant seizures, reduced muscle tone, developmental delay, lactic acidosis and unusual facial appearance. More detailed information about the symptoms, causes, and treatments of 2p21 deletion syndrome is available below.
See full list of 26 symptoms of 2p21 deletion syndrome
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