OntologyTerm
brain abnormalities, neurodegeneration, and dysosteosclerosis

released
   December 12th, 2019 at 12:21am

Details


definition 
An autosomal recessive disease with variable manifestations. Main features are brain malformations with calcifying leukoencephalopathy, progressive neurodegeneration, and bone sclerotic features. The age at onset ranges from infancy to early adulthood. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum. (EFO)
namespace 
http://www.ebi.ac.uk/efo
preferred_name 
brain abnormalities, neurodegeneration, and dysosteosclerosis
source_ontologies 
term_id 
EFO:0010268
term_name 
brain abnormalities, neurodegeneration, and dysosteosclerosis
term_url 
http://www.ebi.ac.uk/efo/EFO_0010268