- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: PCS. Frequency: 6/19. (PMID:9140397)
- Nephronophthisis (HP:0000090): Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. Evidence: PCS. Frequency: 20/20. (PMID:20835237)
- 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:20835237)
- Retinal degeneration (HP:0000546): A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells. Evidence: PCS. (PMID:20835237)
These phenotypes are associated with the disease Senior-Loken syndrome 7 (OMIM:613615).