LYMPHEDEMA, CONGENITAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 247440
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:0000811) Abnormal external genitalia 6 / 7739
2
 (HPO:0012375) Chemosis 7 / 7739
3
 (HPO:0004788) Intestinal lymphedema 1 / 7739
4
 (MedDRA:10038189) Red eye 2 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
 (OMIM) Congenital lymphedema 1 / 7739
7
 (OMIM) External genitalia deformity 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: