16p11.2p12.2 microduplication syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Dup(16)(p11.2p12.2)
Trisomy 16p11.2p12.2
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Number of Symptoms
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13
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OrphanetNr:
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261204
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OMIM Id:
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ICD-10:
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Q92.3
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant inheritance
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Partial duplication of the short arm of chromosome 16
-Rare developmental defect during embryogenesis
-Rare genetic disease
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1
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(HPO:0000047)
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Hypospadias |
Occasional [Orphanet]
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250 / 7739
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2
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(HPO:0000252)
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Microcephaly |
Occasional [Orphanet]
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832 / 7739
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3
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(HPO:0000202)
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Oral cleft |
Occasional [Orphanet]
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120 / 7739
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4
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(HPO:0000545)
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Myopia |
Occasional [Orphanet]
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286 / 7739
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5
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(HPO:0000708)
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Behavioral abnormality |
Occasional [Orphanet]
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212 / 7739
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6
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(HPO:0001332)
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Dystonia |
Occasional [Orphanet]
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197 / 7739
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7
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(HPO:0001250)
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Seizures |
Occasional [Orphanet]
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1245 / 7739
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8
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(HPO:0000717)
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Autism |
Occasional [Orphanet]
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108 / 7739
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9
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(HPO:0000752)
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Hyperactivity |
Occasional [Orphanet]
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140 / 7739
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10
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(HPO:0002167)
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Neurological speech impairment |
Occasional [Orphanet]
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308 / 7739
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11
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(HPO:0000767)
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Pectus excavatum |
Occasional [Orphanet]
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244 / 7739
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12
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(HPO:0001428)
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Somatic mutation |
Very frequent [Orphanet]
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100 / 7739
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13
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(HPO:0012758)
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Neurodevelopmental delay |
Occasional [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |