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Disease Ontology Term: congenital disorder of glycosylation Ia

DO ID
DOID:0080552
Description
A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13.
Synonyms
congenital disorder of glycosylation 1a, PMM2-congenital disorder of glycosylation
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Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference