HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 236500
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:0000110) Renal dysplasia 44 / 7739
2
 (HPO:0000089) Renal hypoplasia 78 / 7739
3
 (HPO:0000104) Renal agenesis 68 / 7739
4
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
 (OMIM) Multinucleated neurons 1 / 7739
7
 (OMIM) Rudimentary brain 1 / 7739
8
 (HPO:0002324) Hydranencephaly 9 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: