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Zellweger-like syndrome without peroxisomal anomalies

Disease definition

Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.

ORPHA:50812

Classification level: Disorder
  • Synonym(s):
    • Ahn-Lerman-Sagie syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Mitochondrial inheritance 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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