ALDH18A1-related de Barsy syndrome

MONDO:0009053

ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.

Also known as: P5CS deficiency, ARCL3A, Delta-1-pyrroline 5-carboxylate synthetase deficiency, neurocutaneous syndrome, Bicknell type, De Barsy syndrome a, autosomal recessive cutis laxa type IIIA, cutis laxa, autosomal recessive, type 3A, cutis laxa, autosomal recessive, type IIIA

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Cutis laxa (37) Human disease (14) Developmental defect during embryogenesis (8) Premature aging syndrome (6) Autosomal recessive disease (4) Inborn disorder of amino acid metabolism (4)

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