| Metadata | |
|---|---|
| ID | DOID:0060768 |
| Name | Smith-Magenis 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. https://www.ncbi.nlm.nih.gov/books/NBK1310/, https://www.ncbi.nlm.nih.gov/pubmed/16845274, https://www.ncbi.nlm.nih.gov/pubmed/21844811, https://www.ncbi.nlm.nih.gov/pubmed/6745947 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
17p11.2 microdeletion syndrome [EXACT] chromosome 17p11.2 deletion syndrome [EXACT] |
| Parent Relationships |