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| Skeletal dysplasia v0.0 | CLCN5 |
Zornitza Stark gene: CLCN5 was added gene: CLCN5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CLCN5 were set to Nephrolithiasis, type I 310468; Dent disease 300009; Hypophosphatemic rickets 300554; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 |
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