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| Term | childhood-onset neurodegeneration with brain atrophy | ID (Ontology) | DOID:0070474 (Human Disease) |
| 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. | ||
| Also Known As | "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" ; "CONDBA" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ central nervous system disease | |__neurodegenerative disease___| childhood-onset neurodegeneration with brain atrophy 4 rec. |
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| Is a |
autosomal dominant disease neurodegenerative disease |
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GARD:13658 MIM:617672 ORDO:500180 SNOMEDCT_US_2023_03_01:1167373005 UMLS_CUI:C4540086 UMLS_CUI:C5567227 |
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