congenital disorder of glycosylation Im (DOID:0080565)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1m; dolichol kinase deficiency; DOLK-congenital disorder of glycosylation
Alt IDs: OMIM:610768, ORDO:91131
Definition: A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34.