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2q23.1 microduplication syndrome

Disease Summary
Associated Targets (0)

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Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0017786:  2q23.1 microduplication syndrome
Orphanet:313947: 
SCTID:766816008: 
UMLS:CN203736: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found