partial deletion of the long arm of chromosome 14 distal monosomy 14q https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/distal_monosomy_14q GARD:0019329 Orphanet:96150 UMLS:C4749276 MONDO:0019898 telomeric deletion 14q distal deletion 14q Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported. distal monosomy type 14q MEDGEN:1656422