released
December 12th, 2019 at 12:21am
Details
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