2q23.1 microduplication syndrome
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 behavioral 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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0016953
partial duplication of the long arm of chromosome 2
is_a
dup(2)(q23.1)
exact
trisomy 2q23.1
exact