Trisomy 12p

General Information (adopted from Orphanet):

Synonyms, Signs: Duplication 12p
Number of Symptoms 30
OrphanetNr: 1699
OMIM Id:
ICD-10: Q92.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 of 100 000 [Orphanet]
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial trisomy/tetrasomy of the short arm of chromosome 12
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
2
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
3
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
4
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
5
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
6
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
7
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
8
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
9
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
10
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
11
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
12
 (HPO:0000262) Turricephaly Very frequent [Orphanet] 38 / 7739
13
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
14
 (HPO:0005989) Redundant neck skin Very frequent [Orphanet] 40 / 7739
15
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
16
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
17
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
18
 (HPO:0008053) Aplasia/Hypoplasia of the iris Occasional [Orphanet] 38 / 7739
19
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
20
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
21
 (HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
22
 (HPO:0002558) Supernumerary nipple Occasional [Orphanet] 40 / 7739
23
 (HPO:0001176) Large hands Very frequent [Orphanet] 43 / 7739
24
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
25
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
26
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
27
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
28
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
29
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
30
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: