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

0 clinical trials for this condition and its sub-types, 0 tagged with ALDH18A1-related de Barsy syndrome itself.

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Part of

↑ Developmental anomaly of metabolic origin (384) ↑ Inherited cutis laxa (2) ↑ P5CS deficiency (0) ↑ De Barsy syndrome (0)

Including sub-types (0) Tagged with ALDH18A1-related de Barsy syndrome (0)

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