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ALDH18A1-related de Barsy syndrome | RareConnect | RareConnect.io

/developmental anomaly of metabolic origin

/de Barsy syndrome

/P5CS deficiency

/ALDH18A1-related de Barsy syndrome

ALDH18A1-related de Barsy syndrome

Rare Disease

MONDO:0009053

Also Known As

P5CS deficiencyARCL3ADe Barsy syndrome ADelta-1-pyrroline 5-carboxylate synthetase deficiencyneurocutaneous syndrome, Bicknell typeDe Barsy syndrome aautosomal recessive cutis laxa type IIIAcutis laxa, autosomal recessive, type 3Acutis laxa, autosomal recessive, type IIIAcutis laxa, corneal clouding, and intellectual disabilitycutis laxa, corneal clouding, and mental retardationprogeroid syndrome of De Barsy

Definition

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

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:219150 ↗

Orphanet

Orphanet:35664 ↗

GARD

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