[…] biventricular hypertrophic cardiomyopathy, rhythm abnormalities, cardiac murmur, sudden death Dermatologic – erythema, lipomatosis, reticular pigmentation, hypertrichosis, vitiligo, alopecia
[arupconsult.com]
Gene Role Disease OMIM Descriptions Sources DNA2 causing PEOA6 615156 The disease is caused by mutations affecting the gene represented in this entry.
[nectarmutation.org]
1; PPKCA1 OMIM:212360 Palmoplantar Keratoderma and Congenital Alopecia 2; PPKCA2 OMIM:616099 Palmoplantar Keratoderma and Woolly Hair; PPKWH OMIM:600231 Palmoplantar Keratoderma
[informatics.jax.org]