ASYMMETRIC SHORT STATURE SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr:
OMIM Id: 108450
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000347) Micrognathia 426 / 7739
2
 (HPO:0002007) Frontal bossing 366 / 7739
3
 (HPO:0000444) Convex nasal ridge 87 / 7739
4
 (HPO:0000678) Dental crowding 65 / 7739
5
 (HPO:0000565) Esotropia 58 / 7739
6
 (HPO:0000540) Hypermetropia 99 / 7739
7
 (HPO:0200053) Hemihypotrophy of lower limb 2 / 7739
8
 (HPO:0004626) Lumbar scoliosis 5 / 7739
9
 (HPO:0002949) Fused cervical vertebrae 13 / 7739
10
 (HPO:0008929) Asymmetric short stature 1 / 7739
11
 (OMIM) Pelvic tilt 1 / 7739
12
 (OMIM) Fused atypical cervical vertebrae, carpal bones and ribs 1 / 7739
13
 (OMIM) Small almost beaked nose 1 / 7739
14
 (OMIM) Mild frontal bossing 2 / 7739
15
 (OMIM) Normal intelligence 81 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: