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GENATLAS PHENOTYPE
last update : 05-07-2022
Symbol LGS
Location Xp22.12
Name X-linked Leigh syndrome
Corresponding gene PDHA1
Main clinical features
  • overwhelming lactic acidosis at birth, Leigh syndrome, leading to death in neonatal period or inducing a progressive dysfunction with moderate lactic acidosis or carbohydrate-induced episodic ataxia and mild developmental delay in males
  • neurodevelopmental abnormalities included microcephaly, migration abnormalities (pachygyria, polymicrogyria, periventricular nodular heterotopias), and cerebellar and brainstem hypoplasia with hypoplastic dentate nuclei and pyramidal tracts (PMID: 26865159))
  • Genetic determination sex linked
    Function/system disorder neurology
    neuromuscular
    Type disease
    Remark(s)