Motor or cognitive disorder due to sepiapterin reductase deficiency (Q105038): Difference between revisions
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A distonia responsiva à dopa por deficiência de sepiapterina redutase pertence ao grupo das deficiências de tetra-hidrobiopterina sem hiperfenilalaninemia e é caracterizada principalmente por retardo psicomotor progressivo, distonia e espasticidade na infância. | |||
| description / en | description / en | ||
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. | |||
Revision as of 10:56, 17 August 2026
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. |
