- Heat intolerance (HP:0002046): The inability to maintain a comfortable body temperature in warm or hot weather. Evidence: PCS. Frequency: 2/2. (PMID:30487221)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 2/2. (PMID:30487221)
- Episodic vomiting (HP:0002572): Paroxysmal, recurrent episodes of vomiting. Evidence: PCS. Frequency: 2/2. (PMID:30487221)
- Central hypoventilation (HP:0007110). Evidence: PCS. Frequency: 2/2. (PMID:30487221)
- Chronic constipation (HP:0012450): Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. Evidence: PCS. Frequency: 2/2. (PMID:30487221)
- 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:30487221)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: PCS. Frequency: 2/2. Onset: Neonatal onset (HP:0003623). (PMID:30487221)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: PCS. Frequency: 2/2. (PMID:30487221)
- Episodic hypertension (HP:0000875). Evidence: PCS. Frequency: 2/2. (PMID:30487221)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/2. (PMID:30487221)
These phenotypes are associated with the disease central hypoventilation syndrome, congenital, 3 (OMIM:619483).