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| Likely inborn error of metabolism - targeted testing not possible v1.47 | BTD |
Ivone Leong Source NHS GMS was added to BTD. Source London North GLH was added to BTD. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | BTD | Ellen McDonagh Added phenotypes Biotinidase deficiency for gene: BTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | BTD |
Ellen McDonagh gene: BTD was added gene: BTD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BTD were set to 27604308 Phenotypes for gene: BTD were set to Biotinidase deficiency (Disorders of biotin metabolism); Biotinidase deficiency; lactic acidosis with seizures and eczema,immune deficiency |
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