monosomy 13q34
Findings
No curated finding names monosomy 13q34 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.
Definition from the Mondo Disease Ontology (MONDO:0019902), read 2026-09-29. CC BY 4.0.
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- Very frequent (80% to 99% of cases)
- Abnormality of the coagulation cascadeHPOHP:0003256
- Frequent (30% to 79% of cases)
Show the remaining 23
- Prominent noseHPOHP:0000448
- Frequent (30% to 79% of cases)
- Abnormal earlobe morphologyHPOHP:0000363
- Occasional (5% to 29% of cases)
- Common atriumHPOHP:0011565
- Occasional (5% to 29% of cases)
- EpicanthusHPOHP:0000286
- Occasional (5% to 29% of cases)
- EpistaxisHPOHP:0000421
- Occasional (5% to 29% of cases)
- Fetal pyelectasisHPOHP:0010945
- Occasional (5% to 29% of cases)
Where it sits
Other names
4 names
Resolves to: monosomy 13q34
- Also called
- Del(13)(q34)distal deletion 13q34monosomy type 13q34subtelomeric deletion 13q34