GRACILE syndrome (DOID:0111455)
Alliance: disease page
Synonyms: Fellman disease; Finnish lactic acidosis with hepatic hemosiderosis; Finnish lethal neonatal metabolic syndrome; FLNMS; growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
Alt IDs: OMIM:603358, MESH:C537934, ORDO:53693, UMLS_CUI:C1864002
Definition: A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has _material_basis_in homozygous or compound heterozygous mutation in BCS1L on chromosome 2q35.