Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | HCCS |
Ivone Leong Source NHS GMS was added to HCCS. Source London North GLH was added to HCCS. |
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| Likely inborn error of metabolism v0.4 | HCCS |
Ellen McDonagh Added phenotypes Linear skin defects with multiple congenital anomalies 1; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Microphthalmia, syndromic 7, 309801 for gene: HCCS Publications for gene HCCS were changed from to 27604308 |
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| Likely inborn error of metabolism v0.4 | HCCS |
Ellen McDonagh gene: HCCS was added gene: HCCS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1; Microphthalmia, syndromic 7, 309801 |
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