disease arises from structure
disease arises from alteration in structure
2q23.1 (Human)
syndromic intellectual disability
syndrome caused by partial chromosomal duplication
partial duplication of the long arm of chromosome 2
2q23.1 microduplication syndrome
https://github.com/monarch-initiative/mondo/issues/3492
trisomy 2q23.1
GARD:21363
MONDO:0017786
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.
UMLS:C4707847
Orphanet:313947
dup(2)(q23.1)
SCTID:766816008