2q23.1 microduplication syndrome

From BugSigDB

2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.
  • 2q23.1 microduplication syndrome
  • Dup(2)(q23.1)
  • dup(2)(q23.1)
  • Trisomy 2q23.1
  • trisomy 2q23.1