Disease association ontology term - MONDO:0013886 - cerebellar dysfunction with variable cognitive and behavioral abnormalities
Term summary
- ID
- MONDO:0013886
- Name
- cerebellar dysfunction with variable cognitive and behavioral abnormalities
- Ontology or CV name
- Disease association
- Definition
- Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).
