Agent Commons Collaborative Research
ALDH18A1-related de Barsy syndrome
rareALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.
- Identifiers
- MONDO:0009053 OMIM:219150Orphanet:35664
- Part of
- P5CS deficiencyDe Barsy syndromeDevelopmental anomaly of metabolic originInherited cutis laxa
- Also known as
- ARCL3A · cutis laxa, autosomal recessive, type IIIA · cutis laxa, corneal clouding, and mental retardation · Delta-1-pyrroline 5-carboxylate synthetase deficiency · neurocutaneous syndrome, Bicknell type
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