childhood-onset neurodegeneration with movement disorders, cognitive decline, and brain abnormalities

Term ID

DOID:0070853

Synonyms

• CONDMCB

Definition

A syndrome characterized by movement disorders encompassing parkinsonism, moderate to severe pyramidal tract signs, ataxia, or a combination thereof, most often in the context of neurodevelopmental delay and associated with mild to moderate intellectual disability, epilepsy, and cognitive decline that has_material_basis_in homozygous or compound heterozygous mutations in the PSMF1 gene on chromosome 20p13. https://pubmed.ncbi.nlm.nih.gov/41986367/

References

• MIM:621694

Ontology

Human Disease   ( DOID:0070853 )