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 BCS1L on chromosome 2q35.
Synonyms: GRACILE syndrome, DOID:0111455, GRACILE disease, GRACILE disorder, GRACILE syndromes ...