Activity
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| Likely inborn error of metabolism v1.47 | NSDHL |
Ivone Leong Source NHS GMS was added to NSDHL. Source London North GLH was added to NSDHL. |
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| Likely inborn error of metabolism v0.4 | NSDHL |
Ellen McDonagh gene: NSDHL was added gene: NSDHL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NSDHL were set to 27604308 Phenotypes for gene: NSDHL were set to Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis); CHILD syndrome 308050 XLD; CK syndrome 300831 XLR |
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