Orphanet: Early onset epilepsy intellectual disability brain anomalies syndrome

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Early-onset epilepsy-intellectual disability-brain anomalies syndrome

Disease definition

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.

ORPHA:488635

Classification level: Disorder

Synonym(s):
- Congenital disorder of glycosylation due to PIGG deficiency
- PIGG-CDG
Prevalence: <1 / 1 000 000
Inheritance: -
Age of onset: Neonatal
ICD-10: E77.8
OMIM: 616917
UMLS: -
MeSH: -
GARD: -
MedDRA: -

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Early-onset epilepsy-intellectual disability-brain anomalies syndrome

ORPHA:488635

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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