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

• GARD:12393
• OMIM:610768
• ORDO:91131

Ontology

Human Disease   ( DOID:0080565 )