Tetrasomy 18p
Engelsk navn: Tetrasomy 18p
Engelske synonym: Isochromosome 18p
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.
Informasjon
Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 3307
Klassifiseringsnivå: DisorderICD-10: Q99.8