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| Rare genetic inflammatory skin disorders v1.26 | NSDHL | Ivone Leong Phenotypes for gene: NSDHL were changed from CHILD syndrome; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS to CHILD syndrome, OMIM:308050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | NSDHL |
Catherine Snow Added phenotypes CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS for gene: NSDHL Publications for gene NSDHL were changed from to 10710235 |
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| Rare genetic inflammatory skin disorders v0.21 | NSDHL | Tom Cullup reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 10710235; Phenotypes: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.5 | NSDHL | Rebecca Foulger Source London North GLH was added to NSDHL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.4 | NSDHL | Rebecca Foulger reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.3 | NSDHL |
Rebecca Foulger gene: NSDHL was added gene: NSDHL was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS 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) Phenotypes for gene: NSDHL were set to CHILD syndrome |
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