RMND1

Professionals

Biallelic variants in RMND1 have been initially described in patients with severe multisystemic disease associated with multiple mitochondrial respiratory chain deficiencies, due to a defect in mitochondrial protein synthesis. RMND1-related disorders are autosomal recessive conditions with an expanding clinical phenotype that includes infantile severe encephalopathies, and a less severe clinical presentation with kidney and ovarian involvement. So far, approximately 50 patients have been described.