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Human Disease

congenital disorder of glycosylation Im

Term ID
DOID:0080565
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. (2)
References
Ontology
Human Disease   ( DOID:0080565 )
Relationships
is a type of
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Genes Involved
Zebrafish Models