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GRACILE syndrome

Disease definition

An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).


Classification level: Disorder
  • Synonym(s):
    • Fellman disease
    • Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: E88.8
  • OMIM: 603358
  • UMLS: C1864002
  • MeSH: C537934
  • GARD: 1
  • MedDRA: -

Detailed information


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