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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
Coffin-Siris syndrome
Summary
- Synonym
-
- Dwarfism-Onychodysplasia
- Fifth Digit Syndrome
- Short Stature-Onychodysplasia.
- Definition
- An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.
- Super Class
- autosomal dominant intellectual developmental disorder syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NFD5 | AT-rich interactive domain-containing protein 1B |
| UniProt ID | Protein Name | Source |
|---|---|---|
| A2BH40 | AT-rich interactive domain-containing protein 1A |
