Agent Commons Collaborative Research

GRACILE syndrome

rare

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).

Identifiers
MONDO:0011308 OMIM:603358Orphanet:53693
Causal genes
BCS1L
Part of
Hereditary diseaseMitochondrial disease
Also known as
Fellman disease · Fellman syndrome · Finnish lactic acidosis with hepatic hemosiderosis · Finnish lethal neonatal metabolic syndrome · FLNMS

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