Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia manifesting with global developmental delay mild to severe intellectual disability axial hypotonia strabismus nystagmus and occasionally optic nerve hypoplasia. Brain imaging reveals variable malformations including frontally predominant microgyria gyral disorganization and simplification dysmorphic and hypertrophic basal ganglia cerebellar vermis dysplasia brainstem/corpus callosum hypoplasia and/or olfactory bulbs agenesis.
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 September 2023.
Newly diagnosed with
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Genetic Epilepsy Team Australia
Collaboration of research and care
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.