Tetraploidy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr: 3305
OMIM Id:
ICD-10: Q92.7
UMLs: C0333694
MeSH: D057891
MedDRA:
Snomed: 62749002

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Polyploidy
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
2
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
3
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
4
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
5
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
6
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
7
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
8
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
9
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
10
 (HPO:0000384) Preauricular skin tag Occasional [Orphanet] 62 / 7739
11
 (HPO:0100720) Hypoplasia of the ear cartilage Frequent [Orphanet] 12 / 7739
12
 (HPO:0009486) Radial deviation of the hand Frequent [Orphanet] 13 / 7739
13
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
14
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
15
 (HPO:0010515) Aplasia/Hypoplasia of the thymus Occasional [Orphanet] 17 / 7739
16
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
17
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
18
 (HPO:0002308) Arnold-Chiari malformation Occasional [Orphanet] 42 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: