X-linked lissencephaly with abnormal genitalia
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 September 2023.
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X-linked lissencephaly with abnormal genitalia?
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Advocacy Organizations
Mickie?s Miracles
To help families get into Level IV Pediatric Epilepsy Centers for diagnosis and treatment urgently -- and provide support to families for every season of the pediatric epilepsy journey.
National Organization for Disorders of the Corpus Callosum
The NODCC has become the leading organization for disorders of the corpus callosum seeking to raise the profile, understanding and acceptance of these disorders through education, networking, advocacy, and being a catalyst for research.
Genetic Epilepsy Team Australia
Collaboration of research and care
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.
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.