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Cockayne syndrome
Summary
- Synonym
-
- Neill-Dingwall syndrome
- Definition
- A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
- Super Class
- autosomal recessive disease syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q03468 | DNA excision repair protein ERCC-6 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q18963 | WD_REPEATS_REGION domain-containing protein |
