Non-distal trisomy 10q

General Information (adopted from Orphanet):

Synonyms, Signs: Non-distal duplication 10q
Non-telomeric trisomy 10q
Number of Symptoms 24
OrphanetNr: 1695
OMIM Id:
ICD-10: Q92.3
UMLs: C2936831
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Chromosomal anomaly with cataract
 -Rare eye disease
 -Rare genetic disease
Partial duplication of the long arm of chromosome 10
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
(HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
3
(HPO:0000159) Abnormality of the lip Very frequent [Orphanet] 33 / 7739
4
(HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
5
(HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
6
(HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
7
(HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
8
(HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
9
(HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
10
(HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
11
(HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
12
(HPO:0000444) Convex nasal ridge Frequent [Orphanet] 87 / 7739
13
(HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
14
(HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
15
(HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
16
(HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
17
(HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
18
(HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
19
(HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
20
(HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
21
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
22
(HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
23
(HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
24
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: