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| Childhood onset dystonia, chorea or related movement disorder v0.7 | PTS |
Ellen McDonagh Source PanelApp was added to PTS. Mode of inheritance for gene PTS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 6-Pyruvoyltetrahydropterin Synthase Deficiency; Dystonia; 6-Pyruvoyl-tetrahydropterin synthase deficiency; Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS Publications for gene PTS were changed from to 27830117; 9450907; 8178819; 10220141; 27604308 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | PTS |
Ellen McDonagh gene: PTS was added gene: PTS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PTS was set to |
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