Methylmalonic Aciduria and Homocystinuria, Cobalamin F Type (LMBRD1)

Methylmalonic aciduria and homocystinuria, cobalamin F type is an autosomal recessive disorder caused by pathogenic variants in the gene LMBRD1. The onset of this disorder ranges from perinatal to childhood, with the perinatal form presenting with congenital heart disease, intrauterine growth retardation, and dysmorphic features, while the infantile and childhood onset forms manifest seizures, development delay, delayed growth, failure to thrive, and lethargy. The life expectancy for this disorder is currently unknown.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):