ORPHA:35664

ALDH18A1-related De Barsy syndrome

Also called Neurocutaneous syndrome, Bicknell type, P5CS deficiency, Delta-1-pyrroline 5-carboxylate synthetase deficiency

Body system

Skin diseases

Inheritance pattern

Autosomal recessive, Not applicable

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:35664 is classified under "Skin diseases" in the Orphanet nomenclature.