Orphanet: Growth and developmental delay hypotonia vision impairment lactic acidosis syndrome
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Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Disease definition

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.

ORPHA:391348

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E88.8
  • OMIM: 615578
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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