Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer

MeSH terms

• Alleles
• Child, Preschool
• Echocardiography
• Energy Metabolism / genetics
• Exome Sequencing
• Female
• Fumarate Hydratase / deficiency*
• Genotype
• Humans
• In Situ Hybridization, Fluorescence
• Karyotype
• Magnetic Resonance Imaging
• Metabolism, Inborn Errors / diagnosis*
• Metabolism, Inborn Errors / etiology*
• Muscle Hypotonia / diagnosis*
• Muscle Hypotonia / etiology*
• Pedigree
• Phenotype
• Psychomotor Disorders / diagnosis*
• Psychomotor Disorders / etiology*
• Symptom Assessment