ALDH18A1-related De Barsy syndrome

From BugSigDB


ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.
Aliases
  • ALDH18A1-related de Barsy syndrome
  • ARCL3A
  • autosomal recessive cutis laxa type IIIA
  • cutis laxa, autosomal recessive, type 3A
  • cutis laxa, autosomal recessive, type IIIA
  • cutis laxa, corneal clouding, and intellectual disability
  • cutis laxa, corneal clouding, and mental retardation
  • De Barsy syndrome A
  • De Barsy syndrome a
  • Delta-1-pyrroline 5-carboxylate synthetase deficiency
  • Neurocutaneous syndrome, Bicknell type
  • neurocutaneous syndrome, Bicknell type
  • P5CS deficiency
  • P5CS deficiency
  • progeroid syndrome of De Barsy