Phenotypes associated with the disease Leber congenital amaurosis 17 (OMIM:615360):
- Ultra-low vision with retained motion projection (HP:0032284): Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm). Evidence: TAS. Frequency: 1/1. (PMID:23307924)
- 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:23307924)