16p13.11 microduplication syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Dup(16)(p13.11)
Trisomy 16p13.11
Number of Symptoms 18
OrphanetNr: 261243
OMIM Id:
ICD-10: Q92.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial duplication of the short arm of chromosome 16
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
2
 (HPO:0000268) Dolichocephaly Occasional [Orphanet] 144 / 7739
3
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
4
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
5
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
6
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
7
 (HPO:0001763) Pes planus Occasional [Orphanet] 176 / 7739
8
 (HPO:0011302) Long palm Occasional [Orphanet] 70 / 7739
9
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
10
 (HPO:0001161) Hand polydactyly Frequent [Orphanet] 71 / 7739
11
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
12
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
13
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
14
 (HPO:0001669) Transposition of the great arteries Occasional [Orphanet] 36 / 7739
15
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
16
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
17
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
18
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: