Congenital Disorder of Glycosylation la

Congenital Disorder of Glycosylation Ia [PMM2]: Hypotonia, abnormal fat distribution, strabismus, developmental delay, and failure to thrive appear in infancy. Other symptoms include elevated liver function tests, seizures, and pericardial effusion that could lead to death under 1 year of life due to multiple organ failure. Affected individuals who survive infancy may have intellectual disability, lethargy, temporary paralysis, neuropathy, kyphoscoliosis, ataxia, contractures and retinitis pigmentosa.

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