| Pubmed | emedicine | OMIM | NORD | Web | Ggl Images | Yho Images | Videos |

GRACILE syndrome

 
GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism.

Etiology

-  mutation in BCS1L gene (2q33-37)


Make a note

Forum de l'article

Contact us at humpath2004@yahoo.ca if you want to be the curator of this page or this section.
Copyright www.humpath.com