camptodactyly-tall stature-scoliosis-hearing loss syndrome (Q50349826)
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autosomal genetic disease characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has material basis in partial loss of function in the FGFR3 gene on chromosome 4p16
- CATSHL syndrome
- CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
- Camptodactyly, tall stature, and hearing loss syndrome
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | camptodactyly-tall stature-scoliosis-hearing loss syndrome |
autosomal genetic disease characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has material basis in partial loss of function in the FGFR3 gene on chromosome 4p16 |
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