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Metadata
DOID DOID:0060768
Name Smith-Magenis syndrome
Definition A chromosome deletion syndrome 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
Synonyms

17p11.2 microdeletion syndrome [EXACT]

chromosome 17p11.2 deletion syndrome [EXACT]

Xrefs

GARD:8197

ICD10CM:Q93.5

MESH:D058496

OMIM:182290

ORDO:819

Relationships

is_a chromosomal deletion syndrome

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