Mosaic trisomy 14

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 30
OrphanetNr: 1703
OMIM Id:
ICD-10: Q92.1
UMLs: C2930917
MeSH: C535489
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:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
2
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
3
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
4
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
5
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
6
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
7
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
8
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
9
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
10
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
11
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
12
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
13
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
14
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
15
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
16
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
17
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
18
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Frequent [Orphanet] 67 / 7739
19
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
20
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
21
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
22
 (HPO:0100559) Lower limb asymmetry Occasional [Orphanet] 30 / 7739
23
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
24
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
25
 (HPO:0001545) Anteriorly placed anus Frequent [Orphanet] 55 / 7739
26
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
27
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
28
 (HPO:0030680) Abnormality of cardiovascular system morphology Very 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: