X-linked lissencephaly with abnormal genitalia

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Synonyms: X-linked lissencephaly with ambiguous genitalia | X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome | XLAG (X-linked lissencephaly with abnormal genitalia) syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly agenesis of the corpus callosum and other cerebral structural anomalies early-onset intractable seizures and ambiguous genitalia. Consequences of hypothalamic dysfunction such as disturbed temperature regulation may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males while female carriers may be unaffected or show a milder phenotype with developmental delay behavioral abnormalities 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 July 2024

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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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