Meckel syndrome 4 (Q50349683)
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A Meckel syndrome that has material basis in an autosomal recessive mutation of CEP290 on chromosome 12q21.32.
- Meckel-Gruber syndrome, type 4
- MKS4
- MECKEL SYNDROME, TYPE 4
- MECKEL SYNDROME, TYPE 4; MKS4
- Meckel-Like Cerebrorenodigital Syndrome
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Meckel syndrome 4 |
A Meckel syndrome that has material basis in an autosomal recessive mutation of CEP290 on chromosome 12q21.32. |
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