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DOID:0090131 - complex cortical dysplasia with other brain malformations
Disease Ontology Definition:A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations including; polymicrogyria, gyral disorganization, fusion of the basal ganglia, thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis and behavioral phenotypes including; intellectual disablility, strabismus, axial hypotonia, and spasticity.
Synonyms: CDCBM,
Xenbase Genes
:
tubb,
tubb2b,
tubg1,
kif2a,
kif5c,
tubb3
| MONDO:0000904 - complex cortical dysplasia with other brain malformations |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
brain disease (is_a)