CARDIAC VALVULAR DEFECT, DEVELOPMENTAL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 212093
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:0008722) Urethral diverticulum 1 / 7739
2
 (HPO:0000126) Hydronephrosis 119 / 7739
3
 (HPO:0000072) Hydroureter 146 / 7739
4
 (HPO:0001789) Hydrops fetalis 63 / 7739
5
 (HPO:0000023) Inguinal hernia 181 / 7739
6
 (HPO:0005180) Tricuspid regurgitation 20 / 7739
7
 (HPO:0001718) Mitral stenosis 10 / 7739
8
 (HPO:0000969) Edema 117 / 7739
9
 (OMIM) Atrioventricular valves thickened 1 / 7739
10
 (OMIM) Fetal hydrops 15 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: