Trisomy 9p

General Information (adopted from Orphanet):

Synonyms, Signs: Short arm of chromosome 9 duplication
Duplication 9p
Short arm of chromosome 9 trisomy
Number of Symptoms 25
OrphanetNr: 236
OMIM Id:
ICD-10: Q92.2
UMLs:
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 trisomy of the short arm of chromosome 9
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
2
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
3
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
4
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
5
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
6
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
7
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
8
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
9
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
10
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
11
 (HPO:0000615) Abnormality of the pupil Very frequent [Orphanet] 39 / 7739
12
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
13
 (HPO:0004404) Abnormality of the nipple Very frequent [Orphanet] 54 / 7739
14
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
15
 (HPO:0010769) Pilonidal sinus Frequent [Orphanet] 35 / 7739
16
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
17
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
18
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
19
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
20
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
21
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
22
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
23
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
24
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
25
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: