distal monosomy 14q
Findings
No curated finding names distal monosomy 14q yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0019898), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
3 names
Resolves to: distal monosomy 14q
- Also called
- distal deletion 14qdistal monosomy type 14qtelomeric deletion 14q