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| Ichthyosis and erythrokeratoderma v1.31 | JUP |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES;PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR;palmoplantar keratoderma (PPK), keratoderma with woolly hair;Naxos disease, 601214;KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY |
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| Ichthyosis and erythrokeratoderma v1.31 | JUP | Ivone Leong Phenotypes for gene: JUP were changed from WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; palmoplantar keratoderma (PPK), keratoderma with woolly hair; Naxos disease, 601214; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY to Naxos disease, OMIM:601214 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.3 | JUP |
Ellen McDonagh gene: JUP was added gene: JUP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JUP were set to 20130592; 10902626; 21668431 Phenotypes for gene: JUP were set to WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; palmoplantar keratoderma (PPK), keratoderma with woolly hair; Naxos disease, 601214; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY |
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