Autosomal Recessive Cutis Laxa Type Iii

Autosomal Recessive Cutis Laxa Type Iii, also known as de barsy syndrome, is related to cutis laxa, autosomal recessive, type iiib and cutis laxa, autosomal recessive, type iiia, and has symptoms including athetosis, seizures and grimacing. An important gene associated with Autosomal Recessive Cutis Laxa Type Iii is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1), and among its related pathways/superpathways are Extracellular matrix organization and superpathway of L-citrulline metabolism. Affiliated tissues include skin and eye, and related phenotypes are hyperreflexia and failure to thrive