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.

Ashkenazi Jewish Carrier Frequency: 1 in 61