DISEASES

Disease-gene associations mined from literature

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 ...