Carvajal syndrome (Q5047506)
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autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has material basis in homozygous mutation in the DSP gene on chromosome 6p24
- palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
- DCWHK
- dilated cardiomyopathy with woolly hair and keratoderma
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Carvajal syndrome |
autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has material basis in homozygous mutation in the DSP gene on chromosome 6p24 |
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Wikipedia(3 entries)
- dewiki Carvajal-Syndrom
- enwiki Carvajal syndrome
- plwiki Zespół Carvajala