disease arises from structure disease arises from alteration in structure 19p13.3 (Human) partial deletion of the short arm of chromosome 19 distal monosomy 19p13.3 https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/distal_monosomy_19p133 GARD:0019326 distal deletion 19p UMLS:C4749277 MONDO:0019893 telomeric deletion 19p Orphanet:96129 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). MEDGEN:1665859