CAMPTOMELIC SYNDROME, LONG-LIMB TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: CAMPOMELIC SYNDROME, LONG-LIMB TYPE
Number of Symptoms 6
OrphanetNr:
OMIM Id: 211990
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:0002983) Micromelia 130 / 7739
2
(HPO:0006487) Bowing of the long bones 95 / 7739
3
(OMIM) Arms rarely involved 1 / 7739
4
(OMIM) Bowed long bones, normal width 1 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Slightly short 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: