Activity
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| Undiagnosed metabolic disorders v1.85 | BCS1L | Eleanor Williams Phenotypes for gene: BCS1L were changed from Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex III Deficiency to Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000; Bjornstad syndrome, 262000; GRACILE syndrome, 603358; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex III Deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||