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
