De Barsy syndrome
De Barsy syndrome is usually caused by mutations in either the ALDH18A1 gene on chromosome 10q24.1 or the PYCR1 gene on chromosome 17q25.3.
Surgical intervention is available for some of the congenital defects. Dietary and medical intervention is necessary to correct metabolic abnormalities if they occur.
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified
59252009 – Cutis laxa-corneal clouding-oligophrenia syndrome