congenital disorder of glycosylation type 1E

Introduction

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

More general terms

• congenital disorder of glycosylation

Additional terms

• dolichol-phosphate mannosyltransferase 1

Database

• OMIM: https://mirror.omim.org/entry/603503