has material basis in germline mutation in DOLK syndromic disease congenital disorder of glycosylation type I DK1-congenital disorder of glycosylation https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_im CDG1M CDG Im congenital disorder of glycosylation type Im DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity. DK1-CDG CDG syndrome type Im congenital disorder of glycosylation, type Im Dk1 deficiency MONDO:0012556 Orphanet:91131 DK1-congenital disorder of glycosylation congenital disorder of glycosylation type 1m OMIM:610768 CDGIm MEDGEN:332072 DOID:0080565 GARD:0012393 hypotonia and ichthyosis due to dolichol phosphate deficiency carbohydrate deficient glycoprotein syndrome type Im MESH:C563666 CDG-Im SCTID:718712005 UMLS:C1835849 DOLK-CDG (CDG-Im) dolichol kinase deficiency familial dilated cardiomyopathy disorder of multiple glycosylation hereditary skin disorder