Ring chromosome 6

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr: 1448
OMIM Id:
ICD-10: Q93.2
UMLs: C0795814
C2931604
MeSH: C537763
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:0000470) Short neck Very frequent [Orphanet] 345 / 7739
2
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
 (HPO:0002162) Low posterior hairline Very frequent [Orphanet] 88 / 7739
4
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
5
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
6
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
7
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
8
 (HPO:0002023) Anal atresia Very frequent [Orphanet] 135 / 7739
9
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
10
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
11
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: