Cobblestone lissencephaly without muscular or ocular involvement
Synonyms: Cobblestone lissencephaly without muscular or eye involvement | Lissencephaly type 2 without muscular or eye involvement | Lissencephaly type 2 without muscular or ocular involvement
A rare genetic cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations including cortical gyral and sulcus anomalies white matter signal abnormalities cerebellar dysplasia and brainstem hypoplasia existing alone or in conjunction with minimal muscular and ocular abnormalities typically manifesting with severe developmental delay increased head circumference hydrocephalus and seizures.
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 September 2023.
Newly diagnosed with
Cobblestone lissencephaly without muscular or ocular involvement?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.