Term Name: | congenital disorder of glycosylation Im |
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Synonyms: | congenital disorder of glycosylation 1m, dolichol kinase deficiency, DOLK-congenital disorder of glycosylation |
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. |
Ontology: | Human Disease [DOID:0080565] ( DOID:0080565 ) |