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Alacrimia-choreoathetosis-liver dysfunction syndrome

Disease definition

A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.


Classification level: Disorder
  • Synonym(s):
    • NGLY1 deficiency
    • NGLY1-CDDG
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: E77.8
  • OMIM: 615273
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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