released
December 12th, 2019 at 12:21am
Details
Details
definition
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR27 is a progressive disease characterized by gait difficulties, eye movement abnormalities, dysarthria, and difficulty writing. Some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment. (EFO)
namespace
http://www.ebi.ac.uk/efo
parents
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preferred_name
spinocerebellar ataxia, autosomal recessive, 27
source_ontologies
term_id
EFO:0010248
term_name
spinocerebellar ataxia, autosomal recessive, 27
term_url
http://www.ebi.ac.uk/efo/EFO_0010248