Ring chromosome 10

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 25
OrphanetNr: 1438
OMIM Id:
ICD-10: Q93.2
UMLs: C0265438
C2931727
MeSH: C538086
MedDRA:
Snomed: 86997002

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Ring chromosome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Very frequent [Orphanet] 127 / 7739
2
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
3
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
4
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
5
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
6
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
7
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
8
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
9
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
10
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
11
 (HPO:0009748) Large earlobe Very frequent [Orphanet] 27 / 7739
12
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
13
 (HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
14
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
15
 (HPO:0002251) Aganglionic megacolon Very frequent [Orphanet] 78 / 7739
16
 (HPO:0004404) Abnormality of the nipple Very frequent [Orphanet] 54 / 7739
17
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
18
 (HPO:0001852) Sandal gap Very frequent [Orphanet] 63 / 7739
19
 (HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
20
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
21
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
22
 (HPO:0002901) Hypocalcemia Very frequent [Orphanet] 56 / 7739
23
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
24
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
25
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: