Isolated lissencephaly type 1 without known genetic defects

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Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group classic lissencephaly (see this term). It is a diagnosis of exclusion when neither associated malformations nor family history are present and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay intellectual disability 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 June 2024

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Isolated lissencephaly type 1 without known genetic defects?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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