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polymicrogyria, bilateral perisylvian, autosomal recessive

Disease Summary
Associated Targets (1)
Tbio

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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. BPPR is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability. Polymicrogyria is a heterogeneous disorder, considered to be the result of post-migratory abnormal cortical organization.
Mondo Term and Equivalent IDs
MONDO:0014333:  polymicrogyria, bilateral perisylvian, autosomal recessive
UMLS:C3810405: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found