Phenotypes associated with the disease cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction (OMIM:601389):
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: IEA. (OMIM:601389)
- Cervical ribs (HP:0000891). Evidence: IEA. (OMIM:601389)
- Preaxial hand polydactyly (HP:0001177): Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. Evidence: IEA. (OMIM:601389)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: IEA. (OMIM:601389)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: IEA. (OMIM:601389)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: IEA. (OMIM:601389)
- Prune belly (HP:0004392): A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants. Evidence: IEA. (OMIM:601389)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:601389)
- Sprengel anomaly (HP:0000912): A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). Evidence: IEA. (OMIM:601389)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: IEA. (OMIM:601389)
- Thoracolumbar scoliosis (HP:0002944). Evidence: IEA. (OMIM:601389)
- Urethral obstruction (HP:0000796): Obstruction of the flow of urine through the urethra. Evidence: IEA. (OMIM:601389)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: IEA. (OMIM:601389)
- Urinary bladder wall hypertrophy (HP:0008635): Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature. Evidence: IEA. (OMIM:601389)