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16p11.2p12.2 microduplication syndrome

MedGen UID:
1377902
Concept ID:
C4518821
Disease or Syndrome
Synonyms: 16p11.2 microduplication syndrome; 16p11.2-p12.2 microduplication syndrome; Dup(16)(p11.2p12.2); dup(16)(p11.2p12.2); Trisomy 16p11.2p12.2; trisomy 16p11.2p12.2
SNOMED CT: 16p11.2p12.2 microduplication syndrome (733518000); Trisomy 16p11.2p12.2 (733518000)
 
Monarch Initiative: MONDO:0016834
Orphanet: ORPHA261204

Definition

A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16. The disorder has a highly variable phenotype with typical characteristics of developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder, dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, up slanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • 16p11.2p12.2 microduplication syndrome

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