Early-onset epilepsy-intellectual disability-brain anomalies syndrome

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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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Advocacy Organizations


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).

Clinical Trials

For a list of clinical trials in this disease area, please click here.