OntologyTerm
global developmental delay, progressive ataxia, and elevated glutamine

released
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   December 12th, 2019 at 12:21am

Details

definition 
An autosomal recessive disease characterized by early-onset delay in motor skills, delayed speech, progressive ataxia, and neurologic deterioration. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels. (EFO)
namespace 
http://www.ebi.ac.uk/efo
parents 
  1. syndromic disease
  2. autosomal recessive disease
preferred_name 
global developmental delay, progressive ataxia, and elevated glutamine
source_ontologies 
  1. Experimental Factor Ontology
term_id 
EFO:0010257
term_name 
global developmental delay, progressive ataxia, and elevated glutamine
term_url 
http://www.ebi.ac.uk/efo/EFO_0010257