Monosomi 18q
Også kjent som: 18q delesjon
Engelsk navn: Monosomy 18q
Engelske synonym: 18q deletion syndrome,18q- syndrome,Deletion 18q
Definisjon
Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.
Fra Orphanet
ORPHA: 1600
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)
