Monosomy 22q13.3

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Monosomy 22q13.3

Synonyms: 22q13.3 deletion | Phelan-McDermid syndrome

Monosomy 22q13.3 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia global developmental delay normal to accelerated growth absent to severely delayed speech and minor dysmorphic features.

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 February 2024

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Monosomy 22q13.3?

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