Ring chromosome 8

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr: 1450
OMIM Id:
ICD-10: Q93.2
UMLs: C2931633
MeSH: C537824
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Ring chromosome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000072) Hydroureter Very frequent [Orphanet] 146 / 7739
2
 (HPO:0000069) Abnormality of the ureter Very frequent [Orphanet] 47 / 7739
3
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
4
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
5
 (HPO:0000340) Sloping forehead Very frequent [Orphanet] 86 / 7739
6
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
7
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
8
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
9
 (HPO:0002162) Low posterior hairline Very frequent [Orphanet] 88 / 7739
10
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
11
 (HPO:0100830) Round ear Very frequent [Orphanet] 7 / 7739
12
 (HPO:0009466) Radial deviation of finger Very frequent [Orphanet] 101 / 7739
13
 (HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
14
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: