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| Childhood onset dystonia, chorea or related movement disorder v0.7 | PDHA1 |
Ellen McDonagh Source PanelApp was added to PDHA1. Mode of inheritance for gene PDHA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Pyruvate dehydrogenase E1-alpha deficiency 312170 for gene: PDHA1 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | PDHA1 |
Ellen McDonagh gene: PDHA1 was added gene: PDHA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PDHA1 was set to |
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