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Hyperammonaemia v0.0 | SERAC1 |
Zornitza Stark gene: SERAC1 was added gene: SERAC1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERAC1 were set to 27604308; 28482397; 27186703; 22683713; 28778788; 16527507; 29205472 Phenotypes for gene: SERAC1 were set to MEGDHEL syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; Hypoglycemia |