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ALDH18A1-related De Barsy syndrome

Disease definition

A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated.


Classification level: Subtype of disorder
  • Synonym(s):
    • Delta-1-pyrroline 5-carboxylate synthetase deficiency
    • Neurocutaneous syndrome, Bicknell type
    • P5CS deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • ICD-11: 5C50.8
  • OMIM: 219150
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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