GRACILE - [Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death] syndrome (Q102276)
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GRACILE syndrome is characterised by fetal growth retardation (G), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). The syndrome affects principally the Finnish population, in which the incidence is approximately 1 in 47 000. It is transmitted in an autosomal recessive manner. The causative gene has been identified as BCS1L (chromosome 2q33-37), which encodes a mitochondrial inner membrane protein.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_510540173 |
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| English | GRACILE - [Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death] syndrome |
GRACILE syndrome is characterised by fetal growth retardation (G), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). The syndrome affects principally the Finnish population, in which the incidence is approximately 1 in 47 000. It is transmitted in an autosomal recessive manner. The causative gene has been identified as BCS1L (chromosome 2q33-37), which encodes a mitochondrial inner membrane protein. |
Statements
CID11:ID_510540173
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dki-india-ID_510540173
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Concluído
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