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childhood-onset neurodegeneration with brain atrophy
Summary
- Synonym
-
- CONDBA
- childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- 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.
- Super Class
- autosomal dominant disease neurodegenerative disease
External Links
- Disease Ontology
- DOID:0070474
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
