8q12 microduplication syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Dup(8)(q12)
Trisomy 8q12
Number of Symptoms 22
OrphanetNr: 228399
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 long arm of chromosome 8
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000076) Vesicoureteral reflux Frequent [Orphanet] 94 / 7739
2
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
3
 (HPO:0002553) Highly arched eyebrow Very frequent [Orphanet] 92 / 7739
4
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
5
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
6
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
7
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
8
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
9
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
10
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
11
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
12
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
13
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
14
 (HPO:0001291) Abnormality of the cranial nerves Frequent [Orphanet] 27 / 7739
15
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
16
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
17
 (HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
18
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
19
 (HPO:0001629) Ventricular septal defect Very frequent [Orphanet] 316 / 7739
20
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
21
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
22
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: