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| Childhood onset dystonia, chorea or related movement disorder v0.7 | BCAP31 |
Ellen McDonagh Source PanelApp was added to BCAP31. Mode of inheritance for gene BCAP31 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS; Deafness, dystonia and cerebellar hypomyelination, 300475 for gene: BCAP31 Publications for gene BCAP31 were changed from to 28332767; 24011989 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | BCAP31 |
Ellen McDonagh gene: BCAP31 was added gene: BCAP31 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: BCAP31 was set to |
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