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| Likely inborn error of metabolism - targeted testing not possible v1.47 | FA2H |
Ivone Leong Source NHS GMS was added to FA2H. Source London North GLH was added to FA2H. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | FA2H |
Ellen McDonagh gene: FA2H was added gene: FA2H was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to 27604308 Phenotypes for gene: FA2H were set to Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis); Early onset dystonia; Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Hereditary spastic paraplegia |
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