autosomal recessive dopa-responsive dystonia (Q55783410)
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Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy
- Dopa-Responsive Dystonia, Autosomal Recessive
- Tyrosine hydroxylase deficiency
- Tyrosine hydroxylase-deficient dopa-responsive dystonia
- Dystonia, Dopa-Responsive, Autosomal Recessive
- SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
- Autosomal recessive Segawa syndrome
- Parkinsonism, Infantile, Autosomal Recessive
- DYT5b
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal recessive dopa-responsive dystonia |
Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy |
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