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Human Disease

Smith-Magenis syndrome

Term ID
DOID:0060768
Synonyms
  • 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. (4)
References
Ontology
Human Disease   ( DOID:0060768 )
Relationships
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Genes Involved
Zebrafish Models