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congenital disorder of glycosylation type 1E
Also see congenital disorder of glycosylation
Genetics:
- autosomal recessive disorder
- associated with mutation in gene for DPM1
Clinical manifestations:
- severe developmental delay
- hypotnia
- seizures
- dysmorphic features
Related
dolichol-phosphate mannosyltransferase 1 (dolichol-phosphate mannose synthase, dolichyl-phosphate beta-D-mannosyltransferase, mannose-P-dolichol synthase, MPD synthase, DPM synthase, dolichyl-phosphate mannosyltransferase 1 catalytic subunit, DPM1, dolichol-phosphate mannosyltransferase 1, dolichol-phosphate mannose synthase 1)
General
congenital disorder of glycosylation
Database Correlations
OMIM 603503
MORBIDMAP 603503
References
OMIM :accession 603503