- 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:26788539)
- Juvenile cataract (HP:0001118): A type of cataract that is not apparent at birth but that arises in childhood or adolescence. Evidence: PCS. Frequency: 19/19. (PMID:26788539)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: PCS. Frequency: 14/19. (PMID:26788539)
- Sudden cardiac death (HP:0001645): The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). Evidence: PCS. Frequency: 5/19. Onset: Adult onset (HP:0003581). (PMID:26788539)
These phenotypes are associated with the disease cataract 46 juvenile-onset (OMIM:212500).