C75469Level 6
Smith-Magenis Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** A genetic syndrome caused by an interstitial deletion in chromosome 17p11.2. It is characterized by mild to moderate mental retardation, distinctive facial features (flat head, square face, and deep set-eyes), sleep disturbances, attention deficit disorders, and temper tantrums.
**Synonyms:** - Chromosome 17p11.2 Deletion Syndrome
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