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Human Disease

childhood-onset neurodegeneration with brain atrophy

Term ID
DOID:0070474
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. https://pubmed.ncbi.nlm.nih.gov/28777933/
References
  • GARD:13658
  • MIM:617672
  • ORDO:500180
  • SNOMEDCT_US_2023_03_01:1167373005
  • UMLS_CUI:C4540086
  • UMLS_CUI:C5567227
Ontology
Human Disease   ( DOID:0070474 )
Relationships
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Genes Involved
Zebrafish Models