Ring chromosome 1

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr: 1437
OMIM Id:
ICD-10: Q93.2
UMLs: C0265395
C1519099
MeSH: C535361
MedDRA:
Snomed: 47017007

Prevalence, inheritance and age of onset:

Prevalence: 34 cases [Orphanet]
Inheritance:
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0009553) Abnormality of the hairline Very frequent [Orphanet] 30 / 7739
2
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
3
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
5
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
6
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
7
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
8
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
9
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
10
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
11
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
12
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
13
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: