1q44 microdeletion syndrome
Synonyms: Del(1)(q44) | Monosomy 1q44
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism developmental delay in particular of expressive speech seizures and hypotonia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
1q44 microdeletion syndrome?
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