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 )