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| Childhood onset dystonia, chorea or related movement disorder v0.7 | SPR |
Ellen McDonagh Source PanelApp was added to SPR. Mode of inheritance for gene SPR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Dopa-Responsive Dystonia; Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Sepiapterin reductase deficiency; paediatric form of dopa responsive dystonia for gene: SPR Publications for gene SPR were changed from to 15241655; 18502672; 27830117; 20301334; 11443547; 22522443; 27604308 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | SPR |
Ellen McDonagh gene: SPR was added gene: SPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SPR was set to |
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