OBO ID: DOID:0112151 |
Term Name: | corpus callosum agenesis-abnormal genitalia syndrome | Search Ontology: | |
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Definition: | 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. (2) | ||
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Ontology: | Human Disease ( DOID:0112151 ) |
OTHER corpus callosum agenesis-abnormal genitalia syndrome PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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