DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for GRACILE syndrome

GRACILE syndrome [DOID:0111455]

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.

Synonyms:  GRACILE syndrome,  DOID:0111455,  GRACILE disease,  GRACILE disorder,  GRACILE syndromes ...