Term Name: GRACILE syndrome
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 )

Relationships
is a type of: autosomal recessive disease mitochondrial metabolism disease