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| Ichthyosis and erythrokeratoderma v1.22 | DSP | Ivone Leong Phenotypes for gene: DSP were changed from Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676 to Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676; Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.21 | DSP |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Skin fragility-woolly hair syndrome;Keratosis palmoplantaris striata II, 612908;lethal acantholytic epidermolysis bullosa, 609638;Striate keratoderma with woolly hair and cardiomyopathy;Skin fragility-woolly hair syndrome, 607655;oligodontia or hypodontia;alopecia, follicular hyperkeratoses and keratoderma;diffuse keratoderma;Epidermolysis bullosa, lethal acantholytic;striate keratoderma;CARVAJAL SYNDROME;Arrhythmogenic right ventricular dysplasia 8, 607450;Keratosis palmoplantaris striata II;Dilated cardiomyopathy with woolly hair and keratoderma, 605676 |
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| Ichthyosis and erythrokeratoderma v1.21 | DSP | Ivone Leong Phenotypes for gene: DSP were changed from Skin fragility-woolly hair syndrome; Keratosis palmoplantaris striata II, 612908; lethal acantholytic epidermolysis bullosa, 609638; Striate keratoderma with woolly hair and cardiomyopathy; Skin fragility-woolly hair syndrome, 607655; oligodontia or hypodontia; alopecia, follicular hyperkeratoses and keratoderma; diffuse keratoderma; Epidermolysis bullosa, lethal acantholytic; striate keratoderma; CARVAJAL SYNDROME; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair and keratoderma, 605676 to Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.3 | DSP |
Ellen McDonagh gene: DSP was added gene: DSP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DSP were set to 22795705; 11841538; 16628197; 19924139; 11063735; 20940358; 26303123; 10594734; 20738328; 16175511; 25516398 Phenotypes for gene: DSP were set to Skin fragility-woolly hair syndrome; Keratosis palmoplantaris striata II, 612908; lethal acantholytic epidermolysis bullosa, 609638; Striate keratoderma with woolly hair and cardiomyopathy; Skin fragility-woolly hair syndrome, 607655; oligodontia or hypodontia; alopecia, follicular hyperkeratoses and keratoderma; diffuse keratoderma; Epidermolysis bullosa, lethal acantholytic; striate keratoderma; CARVAJAL SYNDROME; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair and keratoderma, 605676 |
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