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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 929 | CD14 | CD14 molecule | |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B | |
| 6391 | SDHC | succinate dehydrogenase complex subunit C | |
| 6392 | SDHD | succinate dehydrogenase complex subunit D | |
| 6652 | SORD | sorbitol dehydrogenase | |
| 8794 | TNFRSF10C | TNF receptor superfamily member 10c | |
| 55907 | CMAS | cytidine monophosphate N-acetylneuraminic acid synthetase |
Related Glycoprotein
