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Smith-Magenis syndrome
Summary
- Synonym
-
- 17p11.2 microdeletion syndrome
- chromosome 17p11.2 deletion syndrome
- Definition
- A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.
- Super Class
- chromosomal deletion syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7Z5J4 | Retinoic acid-induced protein 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q61818 | Retinoic acid-induced protein 1 |
