PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, ANDDEAFNESS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 264140
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000126) Hydronephrosis 119 / 7739
2
 (HPO:0000072) Hydroureter 146 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0004392) Prune belly 4 / 7739
6
 (HPO:0001642) Pulmonic stenosis 89 / 7739
7
 (OMIM) Enlarged urinary bladder 1 / 7739
8
 (OMIM) Urinary obstruction 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: