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

• GARD:8197
• ICD10CM:Q93.5
• MESH:D058496
• OMIM:182290
• ORDO:819

Ontology

Human Disease   ( DOID:0060768 )