Phenotypes associated with the disease urofacial syndrome type 1 (OMIM:236730):
- Urethral valve (HP:0010481): The presence of an abnormal membrane obstructing the urethra. Evidence: TAS. (OMIM:236730)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: IEA. (OMIM:236730)
- Abnormal facial expression (HP:0005346). Evidence: TAS. (OMIM:236730)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: IEA. (OMIM:236730)
- 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: IEA. (OMIM:236730)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: IEA. (OMIM:236730)
- 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:236730)
- Urethral obstruction (HP:0000796): Obstruction of the flow of urine through the urethra. Evidence: TAS. (OMIM:236730)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: IEA. (OMIM:236730)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: IEA. (OMIM:236730)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: IEA. (OMIM:236730)