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Childhood onset dystonia, chorea or related movement disorder v0.7 | NPHP1 |
Ellen McDonagh Source PanelApp was added to NPHP1. Mode of inheritance for gene NPHP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 4; 609583 Nephronophthisis 1, juvenile; Senior-Loken syndrome; 256100 Senior-Loken syndrome-1, 266900; Nephronophthisis for gene: NPHP1 Publications for gene NPHP1 were changed from to 15689444; 15138899; 22982934 |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NPHP1 |
Ellen McDonagh gene: NPHP1 was added gene: NPHP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NPHP1 was set to |