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Aldh18A1-Related De Barsy Syndrome (MONDO:0009053)

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

Overview

Category

Ontology ID

Internal:10304

Synonyms

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

cutis laxa, corneal clouding, and intellectual disability

cutis laxa, corneal clouding, and mental retardation

progeroid syndrome of De Barsy

Mapped terms

DOID:0070132

GARD:0016638

ICD9:371.89

MEDGEN:1720006

OMIM:219150

Orphanet:35664

SCTID:59252009

UMLS:C5234852

Child terms

Unknown children.