SPARQL | HTML Microdata document
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Statements
Subject Item _:vb50946190
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n6:ECO_0007645
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n6:IAO_0000115
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A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3.
obo:hasDbXref
url:https://pubmed.ncbi.nlm.nih.gov/1605226/
url:https://pubmed.ncbi.nlm.nih.gov/14722918/