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polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

Disease Summary
Associated Targets (1)
Tchem

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Uniprot Description A form of polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. PMGYCHA patients manifest perisylvian polymicrogyria, cerebellar hypoplasia or dysplasia, and variable contractures of the limbs or fingers.
Mondo Term and Equivalent IDs
MONDO:0014679:  polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
UMLS:C4225295: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found