childhood-onset neurodegeneration with brain atrophy (DOID:0070474)
Alliance: disease page
Synonyms: childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder; CONDBA
Alt IDs: OMIM:617672, ORDO:500180, UMLS_CUI:C4540086, UMLS_CUI:C5567227
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.