Term Name: | childhood-onset neurodegeneration with brain atrophy |
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Synonyms: | childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, CONDBA |
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. |
Ontology: | Human Disease [DOID:0070474] ( DOID:0070474 ) |