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

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