8p23.1 microduplication syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Dup(8)(p23.1)
Trisomy 8p23.1
Number of Symptoms 18
OrphanetNr: 251076
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 8
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
2
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
3
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
4
 (HPO:0002553) Highly arched eyebrow Frequent [Orphanet] 92 / 7739
5
 (HPO:0012471) Thick vermilion border Occasional [Orphanet] 115 / 7739
6
 (HPO:0000490) Deeply set eye Occasional [Orphanet] 131 / 7739
7
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
8
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
9
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
10
 (HPO:0008207) Primary adrenal insufficiency Occasional [Orphanet] 26 / 7739
11
 (HPO:0100777) Exostoses Occasional [Orphanet] 32 / 7739
12
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
13
 (HPO:0001641) Abnormality of the pulmonary valve Occasional [Orphanet] 27 / 7739
14
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
15
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
16
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 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: