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General Information
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| Term |
corpus callosum agenesis-abnormal genitalia syndrome |
ID (Ontology) |
DOID:0112151 (Human Disease) |
| 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. |
| Also Known As |
"ACC with abnormal genitalia" ; "corpus callosum agenesis with abnormal genitalia" ; "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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corpus callosum agenesis-abnormal genitalia syndrome | 3 | for disease ribbon | corpus callosum agenesis-abnormal genitalia syndrome | 3 | model of | corpus callosum agenesis-abnormal genitalia syndrome | 3 |
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Relationships