Isolated lissencephaly type 1 without known genetic defects
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Isolated lissencephaly type 1 without known genetic defects?
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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.
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