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11p15.4 microduplication syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Dup(11)p(15.4); dup(11)p(15.4); Trisomy 11p15.4; trisomy 11p15.4
SNOMED CT: Trisomy 11p15.4 (770794008); 11p15.4 microduplication syndrome (770794008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Monarch Initiative: MONDO:0017580
Orphanet: ORPHA300305


A rare partial autosomal trisomy characterised by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioural abnormalities. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV11p15.4 microduplication syndrome

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