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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
1q41q42 microdeletion syndrome?
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Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
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Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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