Human genes for congenital disorder of glycosylation Ia
Congenital disorder of glycosylation Ia [DOID:0080552]
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 Ia, congenital disorder of glycosylation Ias, DOID:0080552, congenital disorder of glycosylation 1a, PMM2-congenital disorder of glycosylation ...