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


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