CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 601389
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:0000089) Renal hypoplasia 78 / 7739
2
 (HPO:0008635) Hypertrophy of the urinary bladder 1 / 7739
3
 (HPO:0000110) Renal dysplasia 44 / 7739
4
 (HPO:0000796) Urethral obstruction 3 / 7739
5
 (HPO:0000891) Cervical ribs 8 / 7739
6
 (HPO:0001177) Preaxial hand polydactyly 59 / 7739
7
 (HPO:0001762) Talipes equinovarus 309 / 7739
8
 (HPO:0100258) Preaxial polydactyly 39 / 7739
9
 (HPO:0000912) Sprengel anomaly 51 / 7739
10
 (HPO:0002944) Thoracolumbar scoliosis 13 / 7739
11
 (HPO:0001539) Omphalocele 102 / 7739
12
 (HPO:0004392) Prune belly 4 / 7739
13
 (HPO:0002023) Anal atresia 135 / 7739
14
 (HPO:0001973) Autoimmune thrombocytopenia 18 / 7739
15
 (OMIM) Chronic immune thrombocytopenia (CIT) 1 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (OMIM) Dilated ureters 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: