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Undiagnosed metabolic disorders v1.559 SDHA 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
Undiagnosed metabolic disorders v1.556 SDHB 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
Undiagnosed metabolic disorders v1.119 SDHB 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
Undiagnosed metabolic disorders NAGA Sarah Leigh marked NAGA as ready
Undiagnosed metabolic disorders NAGA Sarah Leigh classified NAGA as green
Undiagnosed metabolic disorders AGA Sarah Leigh marked AGA as ready
Undiagnosed metabolic disorders AGA Sarah Leigh classified AGA as green
Undiagnosed metabolic disorders NAGA Sarah Leigh commented on NAGA
Undiagnosed metabolic disorders NAGA Sarah Leigh reviewed NAGA
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders AGA Sarah Leigh reviewed AGA