Trisomy 20p

General Information (adopted from Orphanet):

Synonyms, Signs: Partial duplication of chromosome 20p
Partial trisomy of chromosome 20p
Duplication of 20p
Partial trisomy of the short arm of chromosome 20
Partial trisomy 20p
Dup(20p)
Partial duplication of the short arm of chromosome 20
Number of Symptoms 66
OrphanetNr: 261318
OMIM Id:
ICD-10: Q92.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial trisomy of chromosome 20
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000053) Macroorchidism Occasional [Orphanet] 18 / 7739
2
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
3
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
4
 (HPO:0000069) Abnormality of the ureter Occasional [Orphanet] 47 / 7739
5
 (HPO:0000113) Polycystic kidney dysplasia Occasional [Orphanet] 75 / 7739
6
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
7
 (HPO:0000077) Abnormality of the kidney Occasional [Orphanet] 73 / 7739
8
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
9
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
10
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
11
 (HPO:0002714) Downturned corners of mouth Occasional [Orphanet] 98 / 7739
12
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
13
 (HPO:0000691) Microdontia Occasional [Orphanet] 104 / 7739
14
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
15
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
16
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
17
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
18
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
19
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
20
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
21
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
22
 (HPO:0000288) Abnormality of the philtrum Occasional [Orphanet] 54 / 7739
23
 (HPO:0000294) Low anterior hairline Frequent [Orphanet] 52 / 7739
24
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
25
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
26
 (HPO:0000232) Everted lower lip vermilion Occasional [Orphanet] 90 / 7739
27
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
28
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
29
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
30
 (HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
31
 (HPO:0000322) Short philtrum Occasional [Orphanet] 130 / 7739
32
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
33
 (HPO:0002553) Highly arched eyebrow Very frequent [Orphanet] 92 / 7739
34
 (HPO:0000268) Dolichocephaly Occasional [Orphanet] 144 / 7739
35
 (HPO:0002162) Low posterior hairline Frequent [Orphanet] 88 / 7739
36
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
37
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
38
 (HPO:0009738) Abnormality of the antihelix Occasional [Orphanet] 37 / 7739
39
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
40
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
41
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
42
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
43
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
44
 (HPO:0011442) Abnormality of central motor function Very frequent [Orphanet] 76 / 7739
45
 (HPO:0004404) Abnormality of the nipple Occasional [Orphanet] 54 / 7739
46
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
47
 (HPO:0001760) Abnormality of the foot Frequent [Orphanet] 96 / 7739
48
 (HPO:0000926) Platyspondyly Occasional [Orphanet] 150 / 7739
49
 (HPO:0001177) Preaxial hand polydactyly Occasional [Orphanet] 59 / 7739
50
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
51
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
52
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
53
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
54
 (HPO:0002414) Spina bifida Frequent [Orphanet] 47 / 7739
55
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
56
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
57
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
58
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
59
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
60
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
61
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
62
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
63
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
64
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
65
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
66
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: