PRENATAL BOWING

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 264050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0006487) Bowing of the long bones 95 / 7739
2
 (HPO:0000951) Abnormality of the skin 147 / 7739
3
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
 (OMIM) Dimples (chin, buttocks) 4 / 7739
5
 (OMIM) Prenatal bowing of long bones 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: