Term Name: childhood-onset neurodegeneration with brain atrophy
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 )

Relationships
is a type of: autosomal dominant disease neurodegenerative disease