1q41q42 microdeletion syndrome

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1q41q42 microdeletion syndrome

Synonyms: Del(1)(q41q42) | Monosomy 1q41q42

1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability typical facial dysmorphic features brain anomalies seizures cleft palate clubfeet nail hypoplasia and congenital heart disease.

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 September 2023.

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1q41q42 microdeletion syndrome?

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