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Smith-Magenis Syndrome
Main Features
- Distinctive physical features
- Developmental delay
- Cognitive impairment
- Behavioral abnormalities
- Sleep disturbance
- Childhood-onset abdominal obesity
Eye Findings
- Strabismus
- Myopia
- Iris anomalies
- Microcornea
Other Findings
Etiology
- Heterozygous deletion at chromosome 17p11.2 that includes RAI1 or a heterozygous intragenic RAI1 pathogenic variant.