MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 156230
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:0005864) Pseudoarthrosis 3 / 7739
2
 (HPO:0005736) Short tibia 19 / 7739
3
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
4
 (HPO:0008845) Mesomelic short stature 5 / 7739
5
 (HPO:0008921) Neonatal short-limb short stature 12 / 7739
6
 (OMIM) Normal facies 9 / 7739
7
 (OMIM) Normocephaly 10 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: