9p13 mikrodelesjon
Også kjent som: 9p13 microdeletion syndrome
Engelsk navn: 9p13 microdeletion syndrome
Engelske synonym: Del(9)(p13),Monosomy 9p13
Definisjon
9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).
Fra Orphanet
ORPHA: 324313
Klassifiseringsnivå: Disorder
ICD-10: Q93.5
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
