ALDH18A1-related de Barsy syndrome

Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder)

active

Code	`1295485009`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20231201

Synonyms

Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome
Autosomal recessive cutis laxa type IIIa
Delta-1-pyrroline 5-carboxylate synthetase deficiency
Neurocutaneous syndrome Bicknell type
P5CS deficiency

Parents (1)

59252009de Barsey syndrome disorder

Children (0)

None (leaf concept).