Linear Skin Defects with Multiple Congenital Anomalies 3 (LSDMCA3)

Linear Skin Defects with Multiple Congenital Anomalies 3, also known as linear skin defects with cardiomyopathy and other congenital anomalies, is related to linear skin defects with multiple congenital anomalies 2 and bjornstad syndrome. An important gene associated with Linear Skin Defects with Multiple Congenital Anomalies 3 is NDUFB11 (NADH:Ubiquinone Oxidoreductase Subunit B11), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and AMPK Enzyme Complex Pathway. Affiliated tissues include skin and thyroid, and related phenotypes are asymmetric, linear skin defects and seizure