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1q41q42 microdeletion syndrome

Synonym(s) 1q41-q42 microdeletion syndrome
Monosomy 1q41-q42
Monosomy 1q41q42
Prevalence Unknown
Inheritance Not applicable
or Unknown
Age of onset Infancy
  • Q93.5
MeSH -
MedDRA -


Disease definition

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.

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