Cobblestone lissencephaly without muscular or ocular involvement

Get in touch with RARE Concierge.

Contact RARE Concierge

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 March 2024

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.

Get Concierge Help

Advocacy Organizations

Clinical Trials

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