Distal deletion 19p
Synonyms: Distal deletion 19p13.3 | Distal monosomy 19p13.3 | Telomeric deletion 19p
Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation failure to thrive global developmental delay dysmorphic features (such as broad forehead midface retrusion broad nasal bridge micrognathia smooth philtrum low-set dysplastic ears) congenital anomalies (such as atrial septal defect gastrointestinal anomalies renal and urogenital malformations agenesis of the corpus callosum) and other clinical features (such as hearing loss visual impairment and immune dysregulation).
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
Distal deletion 19p?
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