Polymicrogyria due to TUBB2B mutation
A rare genetic complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly seizures hypotonia developmental delay severe psychomotor delay ataxia spastic diplegia or tetraplegia and ocular abnormalities (strabismus ptosis or optic atrophy).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Polymicrogyria due to TUBB2B mutation?
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