Genetic Disorder Reference Sheet: FH Tumor Predisposition Syndrome

Fumarate hydratase (FH) deficiency occurs in individuals who have homozygous pathogenic variants in the tumor suppressor FH gene. The condition results in poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Development is severely delayed, and individuals are often nonverbal, unable to walk, and die in early childhood.