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skos:definition |
NCI: 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.,JABL: Deletion of the short arm of chromosome 17. As initially reported, the syndrome consisted mainly of cleft palate and congenital heart defect. The phenotype was later expanded to include brachycephaly, midfacial hypoplasia, broad nasal bridge, highly arched palate, mandibular prognathism, malformed ears, short hands, mental retardation, and other less constant abnormalities.,MSH: Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is
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