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DOID:0112151 - corpus callosum agenesis-abnormal genitalia syndrome
Disease Ontology 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.
Synonyms: ACC with abnormal genitalia, corpus callosum agenesis with abnormal genitalia, microcephaly-corpus callosum agenesis-abnormal genitalia syndrome, Proud-Levine-Carpenter syndrome, Proud syndrome
Xenbase Genes
:
arx
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a),
X-linked monogenic disease (is_a)