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Undiagnosed metabolic disorders v1.559
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SDHA
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Arina Puzriakova Phenotypes for gene: SDHA were changed from Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex II deficiency; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642; Paragangliomas 5, 614165; Mitochondrial Respiratory Chain Complex II Deficiency to Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011; Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259; Cardiomyopathy, dilated, 1GG, OMIM:613642
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Undiagnosed metabolic disorders v1.556
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SDHB
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Arina Puzriakova Phenotypes for gene: SDHB were changed from Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex II deficiency; Paragangliomas 4, 115310; Pheochromocytoma, 171300; Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764; Mitochondrial Diseases to Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224
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Undiagnosed metabolic disorders v1.119
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SDHB
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Sarah Leigh Phenotypes for gene: SDHB were changed from Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex II deficiency; Paragangliomas 4, 115310; Pheochromocytoma, 171300; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 2, 612359; Gastrointestinal stromal tumor, 606764; Mitochondrial Diseases to Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex II deficiency; Paragangliomas 4, 115310; Pheochromocytoma, 171300; Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764; Mitochondrial Diseases
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Undiagnosed metabolic disorders
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NAGA
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Sarah Leigh marked NAGA as ready
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Undiagnosed metabolic disorders
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NAGA
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Sarah Leigh classified NAGA as green
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Undiagnosed metabolic disorders
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AGA
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Sarah Leigh marked AGA as ready
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Undiagnosed metabolic disorders
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AGA
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Sarah Leigh classified AGA as green
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Undiagnosed metabolic disorders
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NAGA
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Sarah Leigh commented on NAGA
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Undiagnosed metabolic disorders
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NAGA
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Sarah Leigh reviewed NAGA
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Undiagnosed metabolic disorders
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AGA
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Sarah Leigh edited their review of AGA
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Undiagnosed metabolic disorders
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AGA
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Sarah Leigh edited their review of AGA
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Undiagnosed metabolic disorders
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AGA
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Sarah Leigh edited their review of AGA
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Undiagnosed metabolic disorders
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AGA
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Sarah Leigh edited their review of AGA
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Undiagnosed metabolic disorders
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AGA
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Sarah Leigh edited their review of AGA
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Undiagnosed metabolic disorders
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AGA
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Sarah Leigh reviewed AGA
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