DWARFISM WITH TALL VERTEBRAE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 126950
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002812) Coxa vara 58 / 7739
2
(HPO:0004570) Increased vertebral height 6 / 7739
3
(HPO:0003510) Severe short stature 90 / 7739
4
(OMIM) Cordate pelvis 1 / 7739
5
(OMIM) Slender, caudally directed lower ribs 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Disproportionately tall vertebral bodies 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: