Tetrasomy 18p

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Synonyms: 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Tetrasomy 18p?

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