Motor or cognitive disorder due to sepiapterin reductase deficiency (Q105038): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / Verification Status | |||
Concluído | |||
| Property / Verification Status: Concluído / rank | |||
Normal rank | |||
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 |
||
| 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. |
Statements
CID11:ID_1465745277
0 references
dki-india-ID_1465745277
0 references
Concluído
0 references
