2q24 microdeletion syndrome
Findings
No curated finding names 2q24 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.
Definition from the Mondo Disease Ontology (MONDO:0015566), read 2026-09-29. CC BY 4.0.
Features
28 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.
- Abnormality iris morphologyHPOHP:0000525
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Bullet-shaped distal phalanx of the halluxHPOHP:0010078
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
Show the remaining 16
- Neonatal hypotoniaHPOHP:0001319
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Small for gestational ageHPOHP:0001518
- Very frequent (80% to 99% of cases)
Where it sits
Other names
2 names
Resolves to: 2q24 microdeletion syndrome
- Also called
- Del(2)(q24)monosomy 2q24