2q24 microdeletion syndrome
From BugSigDB
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.
- Aliases
- 2q24 deletion
- 2q24 microdeletion syndrome
- chromosome 2q24 microdeletion syndrome
- Del(2)(q24)
- deletion 2q24
- Monosomy 2q24
- monosomy 2q24
