- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. (OMIM:615988)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:16606853)
- 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:16606853)
- Polydactyly (HP:0010442): A congenital anomaly characterized by the presence of supernumerary fingers or toes. Evidence: PCS. (PMID:16606853)
- Retinopathy (HP:0000488): Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. Evidence: PCS. (PMID:16606853)
- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: PCS. (PMID:16606853)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: PCS. (PMID:16606853)
These phenotypes are associated with the disease Bardet-Biedl syndrome 11 (OMIM:615988).