OntologyTerm
neurodegeneration, childhood-onset, with cerebellar atrophy

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   December 12th, 2019 at 12:21am

Details

definition 
An autosomal recessive disorder characterized by early onset of progressive neurodegeneration affecting the central and peripheral nervous systems. Clinical features include global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. Death in childhood may occur. (EFO)
namespace 
http://www.ebi.ac.uk/efo
parents 
  1. autosomal recessive disease
preferred_name 
neurodegeneration, childhood-onset, with cerebellar atrophy
source_ontologies 
  1. Experimental Factor Ontology
term_id 
EFO:0010256
term_name 
neurodegeneration, childhood-onset, with cerebellar atrophy
term_url 
http://www.ebi.ac.uk/efo/EFO_0010256