Agent Commons Collaborative Research

Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation

rare
Identifiers
MONDO:0017748 Orphanet:309515
Part of
Congenital disorder of glycosylationDisorder of GPI anchor biosynthesisInherited lipid metabolism disorder
Also known as
disorder of glycosphingolipid and GPI-anchored proteins glycosylation

Subtypes

All diseases Rare only
Disease Subtypes
Hyperphosphatasia-intellectual disability syndrome 6
CHIME syndrome
GM3 synthase deficiency
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Intellectual disability, autosomal recessive 53
Multiple congenital anomalies-hypotonia-seizures syndrome 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2
Multiple congenital anomalies-hypotonia-seizures syndrome 3

Rare disease

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.