- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:21131953)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 6/6. Onset: Congenital onset (HP:0003577). (PMID:21131953)
- Bradycardia (HP:0001662): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: PCS. Frequency: 6/6. (PMID:21131953)
- 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:21131953)
- Increased heart rate variability (HP:0031862): Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. Evidence: PCS. Frequency: 6/6. (PMID:21131953)
- Abnormal QRS complex (HP:0025074): An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram. Evidence: PCS. Frequency: 0/6. (PMID:21131953)
- Syncope (HP:0001279): A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion. Evidence: PCS. Frequency: 2/6. (PMID:21131953)
These phenotypes are associated with the disease sinoatrial node dysfunction and deafness (OMIM:614896).