Tetrasomy 18p
Engelsk navn: Tetrasomy 18p
Engelske synonym: Isochromosome 18p
Definisjon
Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.
Fra Orphanet
ORPHA: 3307
Klassifiseringsnivå: Disorder
ICD-10: Q99.8
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
