Polymicrogyria due to TUBB2B mutation

Get in touch with RARE Concierge.

Contact RARE Concierge

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.

Reference: Access aggregated data from Orphanet at Orphadata.

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?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.