- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: PCS. Frequency: 4/5. (PMID:23313374)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: PCS. (PMID:23313374)
- Megacystis (HP:0000021): Dilatation of the bladder postnatally. Evidence: PCS. Frequency: 1/5. (PMID:23313374)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/5. (PMID:23313374)
- Urinary urgency (HP:0000012): Urge incontinence is the strong, sudden need to urinate. Evidence: PCS. Frequency: 4/5. (PMID:23313374)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: PCS. Frequency: 1/5. (PMID:23313374)
- Facial grimacing (HP:0000273). Evidence: PCS. Frequency: 3/9. (PMID:23313374)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/5. (PMID:23313374)
- Spastic/hyperactive bladder (HP:0005340). Evidence: PCS. Frequency: 1/4. (PMID:23313374)
- Bladder trabeculation (HP:0032465): Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface. Evidence: PCS. Frequency: 1/4. (PMID:23313374)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/5. (PMID:23313374)
- Enuresis (HP:0000805): Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. Evidence: PCS. Frequency: 2/5. (PMID:23313374)
- 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: PCS. (PMID:23313374)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: PCS. Frequency: 3/5. (PMID:23313374)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/5. (PMID:23313374)
These phenotypes are associated with the disease urofacial syndrome 2 (OMIM:615112).