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band heterotopia of brain

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum.
Mondo Term and Equivalent IDs
MONDO:0010873:  band heterotopia of brain
MESH:C563950: 
UMLS:C1838239: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found