Synonyms: CDG syndrome type Ie | CDG-Ie | CDG1E | Carbohydrate deficient glycoprotein syndrome type Ie | Congenital disorder of glycosylation type 1e | Congenital disorder of glycosylation type Ie | Dol-P-mannosyltransferase deficiency
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay seizures hypotonia facial dysmorphism and microcephaly. Ocular anomalies are also very common.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
CDG Canada supports patients and families affected by Congenital Disorders of Glycosylation (CDG).
Moonshots for Unicorns
Curing single-gene disorders
Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.
Genetic Epilepsy Team Australia
Collaboration of research and care
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.