Phenotypes associated with the disease Bardet-Biedl syndrome 12 (OMIM:615989):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 5/5. (PMID:20827784;PMID:19797195)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: PCS. Frequency: 1/2. (PMID:20827784)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: PCS. Frequency: 1/2. (PMID:20827784)
- Polydactyly (HP:0010442): A congenital anomaly characterized by the presence of supernumerary fingers or toes. Evidence: PCS. Frequency: 3/3. (PMID:19797195)
- Abdominal mass (HP:0031500): An abnormal enlargement or swelling in the abdomen. Evidence: PCS. Frequency: 1/2. (PMID:20827784)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. (OMIM:615989)
- Cystic renal dysplasia (HP:0000800). Evidence: PCS. Frequency: 2/2. (PMID:20827784)
- Hydrometrocolpos (HP:0030010): Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. Evidence: PCS. Frequency: 1/2. (PMID:20827784)
- 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:19797195)
- Postaxial foot polydactyly (HP:0001830): Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. Evidence: PCS. Frequency: 1/2. (PMID:20827784)
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: PCS. Frequency: 3/3. (PMID:19797195)
- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: PCS. Frequency: 2/2. (PMID:19797195)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: PCS. Frequency: 1/3. (PMID:19797195)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/2. (PMID:20827784)
- Vaginal atresia (HP:0000148): Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. Evidence: PCS. Frequency: 1/2. (PMID:20827784)