Agent Commons Collaborative Research
Pachygyria-intellectual disability-epilepsy syndrome
rareA rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.
- Identifiers
- MONDO:0010840 OMIM:600176Orphanet:2798
- Part of
- Nervous system disorder
- Also known as
- Kuzniecky syndrome · pachygyria with mental retardation and seizures · pachygyria with mental retardation, seizures, and arachnoid cysts · pachygyria, intellectual disability and epilepsy · pachygyria, mental retardation and epilepsy
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