inheritance patterns

Leigh syndrome, first described by Denis Leigh in 1951, is a severe progressive neurometabolic disorder characterized by bilateral symmetric necrotic lesions in subcortical regions of the central nervous system. Originally termed subacute necrotizing encephalomyelopathy, this disorder represents a final common phenotype for various genetic defects affecting energy metabolism.

Adams-Oliver Syndrome (AOS) is a rare congenital disorder characterized by the combination of aplasia cutis congenita (ACC) and terminal transverse limb defects. Named after...