14q24.1q24.3 microdeletion syndrome
MONDO:0018429Mondo
Findings
No curated finding names 14q24.1q24.3 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
24 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 heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Short thumbHPOHP:0009778
- Frequent (30% to 79% of cases)
- Thin upper lip vermilionHPOHP:0000219
- Frequent (30% to 79% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- CryptorchidismHPOHP:0000028
- Occasional (5% to 29% of cases)
- Dislocated radial headHPOHP:0003083
- Occasional (5% to 29% of cases)
- Ectopic kidneyHPOHP:0000086
- Occasional (5% to 29% of cases)
Show the remaining 12
- Intestinal malrotationHPOHP:0002566
- Occasional (5% to 29% of cases)
- Limited elbow extension and supinationHPOHP:0005852
- Occasional (5% to 29% of cases)
- Long philtrumHPOHP:0000343
- Occasional (5% to 29% of cases)
- Midface retrusionHPOHP:0011800
- Occasional (5% to 29% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Occasional (5% to 29% of cases)
- Pulmonary artery atresiaHPOHP:0004935
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: 14q24.1q24.3 microdeletion syndrome
- Also called
- Del(14)(q24.1q24.3)monosomy 14q24.1q24.3