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DOID:0070474 - childhood-onset neurodegeneration with brain atrophy
Disease Ontology Definition:A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31.
Synonyms: childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, CONDBA
Xenbase Genes
:
ubtf,
ubtf.2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee