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complex cortical dysplasia with other brain malformations 7

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.
Uniprot Description 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.
Disease Ontology Description A complex cortical dysplasia with other brain malformations characterized by autosomal dominant inheritance of abnromalities in coritcal brain development that has_material_basis_in heterozygous mutation in the TUBB2B gene on chromosome 6p25.
Mondo Term and Equivalent IDs
MONDO:0012399:  complex cortical dysplasia with other brain malformations 7
Orphanet:300573: 
UMLS:CN203403: