Mosaic trisomy 9

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 63
OrphanetNr: 99776
OMIM Id:
ICD-10: Q92.1
UMLs: C2930908
MeSH: C535454
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Total autosomal trisomy
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
2
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
3
 (HPO:0000113) Polycystic kidney dysplasia Occasional [Orphanet] 75 / 7739
4
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
5
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
6
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
7
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
8
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
9
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
10
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
11
 (HPO:0000465) Webbed neck Occasional [Orphanet] 81 / 7739
12
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
13
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
14
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
15
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
16
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
17
 (HPO:0000476) Cystic hygroma Occasional [Orphanet] 22 / 7739
18
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
19
 (HPO:0000601) Hypotelorism Occasional [Orphanet] 83 / 7739
20
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
21
 (HPO:0002006) Facial cleft Frequent [Orphanet] 25 / 7739
22
 (HPO:0000269) Prominent occiput Occasional [Orphanet] 43 / 7739
23
 (HPO:0000341) Narrow forehead Occasional [Orphanet] 96 / 7739
24
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
25
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
26
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
27
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
28
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
29
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
30
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
31
 (HPO:0009466) Radial deviation of finger Frequent [Orphanet] 101 / 7739
32
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
33
 (HPO:0000921) Missing ribs Occasional [Orphanet] 62 / 7739
34
 (HPO:0006191) Deep palmar crease Occasional [Orphanet] 16 / 7739
35
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
36
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
37
 (HPO:0002983) Micromelia Occasional [Orphanet] 130 / 7739
38
 (HPO:0002652) Skeletal dysplasia Occasional [Orphanet] 113 / 7739
39
 (HPO:0003042) Elbow dislocation Occasional [Orphanet] 89 / 7739
40
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
41
 (HPO:0001838) Rocker bottom foot Frequent [Orphanet] 85 / 7739
42
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
43
 (HPO:0001789) Hydrops fetalis Occasional [Orphanet] 63 / 7739
44
 (HPO:0001195) Single umbilical artery Occasional [Orphanet] 23 / 7739
45
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
46
 (HPO:0002566) Intestinal malrotation Occasional [Orphanet] 89 / 7739
47
 (HPO:0100752) Abnormal liver lobulation Occasional [Orphanet] 2 / 7739
48
 (HPO:0001743) Abnormality of the spleen Occasional [Orphanet] 37 / 7739
49
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
50
 (HPO:0001869) Deep plantar creases Occasional [Orphanet] 14 / 7739
51
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
52
 (HPO:0001654) Abnormality of the heart valves Occasional [Orphanet] 49 / 7739
53
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
54
 (HPO:0004306) Abnormality of the endocardium Occasional [Orphanet] 24 / 7739
55
 (HPO:0001651) Dextrocardia Occasional [Orphanet] 38 / 7739
56
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
57
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
58
 (HPO:0002101) Abnormal lung lobation Occasional [Orphanet] 33 / 7739
59
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
60
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
61
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
62
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
63
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: