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GENATLAS PHENOTYPE
last update : 22/08/2006
Symbol NDUFS4
Location 5q11.2
Name mitochondrial encephalomyopathy, Leigh like syndrome or Leigh syndrome
Corresponding gene NDUFS4
related resource MITOP database
Main clinical features
  • characterized by vomiting, failure to thrive, hypotonia, fatal progressive evolution with normal muscle morphology and without increased lactate concentration
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name iron-sulfur protein 4, 18kD, component of mitochondrial complex I
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein  
    Remark(s)