Early-onset epilepsy-intellectual disability-brain anomalies syndrome
Synonyms: Congenital disorder of glycosylation due to PIGG deficiency | PIGG-CDG
A rare congenital disorder of glycosylation characterized by early onset of hypotonia severe global developmental delay intellectual disability and seizures. Ataxia mild facial dysmorphism and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy cerebellar hypoplasia/atrophy and thin corpus callosum.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Early-onset epilepsy-intellectual disability-brain anomalies syndrome?
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Advocacy Organizations
CDG Canada
CDG Canada supports patients and families affected by Congenital Disorders of Glycosylation (CDG).
Moonshots for Unicorns
Curing single-gene disorders
CDG CARE
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.
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.
Genetic Epilepsy Team Australia
Collaboration of research and care
DDX3X Foundation
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.
COMBINEDBrain Inc
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.