ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 201310
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:0005563) Decreased numbers of nephrons 3 / 7739
2
 (HPO:0000083) Renal insufficiency 232 / 7739
3
 (HPO:0000089) Renal hypoplasia 78 / 7739
4
 (HPO:0001171) Split hand 72 / 7739
5
 (HPO:0001839) Split foot 28 / 7739
6
 (HPO:0009466) Radial deviation of finger 101 / 7739
7
 (HPO:0030084) Clinodactyly 90 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (OMIM) Oligomeganephronic renal hypoplasia 1 / 7739
10
 (OMIM) Tetraectrodactyly 1 / 7739
11
 (MedDRA:10058668) Clinodactyly 91 / 7739
12
 (OMIM) Lobster claw deformity 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: