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Human Disease

corpus callosum agenesis-abnormal genitalia syndrome

Term ID
DOID:0112151
Synonyms
  • ACC with abnormal genitalia
  • corpus callosum agenesis with abnormal genitalia
  • microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
  • Proud syndrome
  • Proud-Levine-Carpenter syndrome
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)
References
Ontology
Human Disease   ( DOID:0112151 )
Relationships
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Genes Involved
Zebrafish Models