GRACILE syndrome
GRACILE syndrome
Definition
GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
Also known as Fellman disease, gracile syndrome, Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome — per MONDO