6q16 mikrodelesjon
Også kjent som: 6q16 deletion syndrome
Engelsk navn: 6q16 microdeletion syndrome
Engelske synonym: Del(6)(q16),Monosomy 6q16,Prader-Willi-like syndrome due to microdeletion 6q16
A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.
Informasjon
Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 171829
Klassifiseringsnivå: DisorderICD-10: Q93.5