| ID |
http://id.who.int/icd/entity/1377848898 |
| Preferred Name |
16p13.11 duplication |
| Definitions |
16p13.11 microduplication syndrome is achromosomal anomaly associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. Behavioral abnormalities include attention deficit/hyperactivity disorder, aggression and disruptive temperament, and autistic spectrum disorders. Skeletal manifestations include hypermobility, craniosynostosis and polydactyly. |
| Type |
http://www.w3.org/2002/07/owl#Class |
| comment | 16p13.11 microduplication syndrome is achromosomal anomaly associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. συμπεριφορικές ανωμαλίες περιλαμβάνουν έλλειμμα / υπερκινητικότητα διαταραχή, επιθετικότητα και διασπαστική ιδιοσυγκρασία, και του αυτιστικού φάσματος disorders. σκελετικές εκδηλώσεις περιλαμβάνουν υπερκινητικότητα, craniosynostosis και polydactyly. 16p13.11 microduplication syndrom jest achromosomal anomaly kojarzyć ze zmiennymi klinicznymi cechami wliczając behawioralnych anormalność, rozwojowa opóźnienie, wrodzone serca defekty i szkieletowe anomalie. 16p13.11 Mikroduplikationssyndrom ist eine achromosomale Anomalie, die mit variablen klinischen Merkmalen wie Verhaltensauffälligkeiten, Entwicklungsverzögerungen, angeborenen Herzfehlern und Skelettanomalien assoziiert ist. Zu den Verhaltensauffälligkeiten gehören Aufmerksamkeitsdefizit- / Hyperaktivitätsstörung, Aggression und Störung des Temperaments sowie Störungen des autistischen Spektrums. Zu den skelettalen Manifestationen gehören Hypermobilität, Schädelfehlbildung und Polydaktylie. 16p13.11 le syndrome de microduplication est une anomalie achromosomique associée à des caractéristiques cliniques variables, y compris des anomalies comportementales, un retard du développement, des malformations cardiaques congénitales et des anomalies squelettiques. les anomalies comportementales comprennent le trouble déficitaire de l'attention / hyperactivité, l'agressivité et le tempérament perturbateur, ainsi que les troubles du spectre autistique. 16p13.11 microduplication syndrome is achromosomal anomaly associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. Behavioral abnormalities include attention deficit/hyperactivity disorder, aggression and disruptive temperament, and autistic spectrum disorders. Skeletal manifestations include hypermobility, craniosynostosis and polydactyly. |
| broaderTransitive | |
| prefLabel | 16p13.11 duplication |
| browserUrl | NA |
| label | 16p13.11 powielanie 16p13.11 Verdoppelung 16p13.11 duplication 16p13.11 διπλασιασμός 16p13.11 duplication |
| subClassOf |
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