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GRACILE syndrome

Disease definition

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

ORPHA:53693

  • Synonym(s):
    • Fellman disease
    • Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
    • 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: -

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