Disease ID | Source | Name | Description |
600348 | OMIM | Band heterotopia (BH) | 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. The disease is caused by variants affecting the gene represented in this entry. |