Term Name: | GRACILE syndrome |
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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 |
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 the BCS1L gene on chromosome 2q35. |
Ontology: | Human Disease [DOID:0111455] ( DOID:0111455 ) |