OBO ID: DOID:0112151
Term Name: corpus callosum agenesis-abnormal genitalia syndrome Search Ontology:
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
is a type of:
OTHER corpus callosum agenesis-abnormal genitalia syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ARX Proud syndrome 300004
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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