Term Name: congenital disorder of glycosylation Im
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 )

Relationships
is a type of: autosomal recessive disease congenital disorder of glycosylation type I