| Metadata | |
|---|---|
| ID | DOID:0111455 |
| Name | GRACILE syndrome |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/12215968, https://www.ncbi.nlm.nih.gov/pubmed/9482441 |
| Xrefs |
SNOMEDCT_US_2023_03_01:703388005 |
| Subsets |
DO_rare_slim |
| Synonyms |
Fellman disease [EXACT] Finnish lactic acidosis with hepatic hemosiderosis [EXACT] Finnish lethal neonatal metabolic syndrome [EXACT] FLNMS [EXACT] growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome [EXACT] growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome [EXACT] growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death [EXACT] |
| Parent Relationships |