Motor or cognitive disorder due to sepiapterin reductase deficiency (Q105038)
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Dopa responsive dystonia due to sepiapterin reductase deficiency belongs to the group of tetrahydrobiopterin deficiencies without hyperphenylalaninemia and is characterised principally by progressive psychomotor retardation, dystonia and spasticity in childhood.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1465745277 |
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| English | Motor or cognitive disorder due to sepiapterin reductase deficiency |
Dopa responsive dystonia due to sepiapterin reductase deficiency belongs to the group of tetrahydrobiopterin deficiencies without hyperphenylalaninemia and is characterised principally by progressive psychomotor retardation, dystonia and spasticity in childhood. |
