Fumarase deficiency (Q93764)
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Fumaric aciduria is a tricarboxylic acid cycle disorder characterised by early onset but non-specific clinical signs: hypotonia, psychomotor retardation, convulsions, respiratory distress, frequent cerebral malformations and polyhydramnios.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_780506966 |
||
| English | Fumarase deficiency |
Fumaric aciduria is a tricarboxylic acid cycle disorder characterised by early onset but non-specific clinical signs: hypotonia, psychomotor retardation, convulsions, respiratory distress, frequent cerebral malformations and polyhydramnios. |
Statements
CID11:ID_780506966
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dki-india-ID_780506966
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Concluído
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15 August 2026
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