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pachygyria-intellectual disability-epilepsy syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Pachygyria-intellectual disability-epilepsy syndrome is a 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.
Mondo Term and Equivalent IDs
MONDO:0010840:  pachygyria-intellectual disability-epilepsy syndrome
GARD:0000409: 
MESH:C538091: 
Orphanet:2798: 
SCTID:763861000: 
UMLS:C1838491: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found