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Skeletal dysplasia v1.153 | NSDHL | Eleanor Williams Added phenotypes Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050; CK syndrome 300831 for gene: NSDHL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | NSDHL | Tracy Lester reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050, CK syndrome 300831; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | NSDHL | Eleanor Williams reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | NSDHL |
Eleanor Williams Source NHS GMS was added to NSDHL. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Skeletal dysplasia | NSDHL | Ellen McDonagh commented on NSDHL |