- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: IEA. (OMIM:261800)
- Upper airway obstruction (HP:0002781): Increased resistance to the passage of air in the upper airway. Evidence: IEA. (OMIM:261800)
- Glossoptosis (HP:0000162): Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. Evidence: IEA. (OMIM:261800)
- 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: IEA. (OMIM:261800)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: IEA. (OMIM:261800)
- Cor pulmonale (HP:0001648): Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle. Evidence: IEA. (OMIM:261800)
- Pierre-Robin sequence (HP:0000201): Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. Evidence: TAS. (OMIM:261800)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:261800)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: IEA. (OMIM:261800)
These phenotypes are associated with the disease isolated Pierre-Robin syndrome (OMIM:261800).