- Retinal detachment (HP:0000541, a Human Phenotype Ontology term): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 8/8. (PMID:21671392)
- Short stature (HP:0004322, a Human Phenotype Ontology term): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 8/8. (PMID:21671392)
- Short chin (HP:0000331, a Human Phenotype Ontology term): Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. Evidence: PCS. Frequency: 8/8. (PMID:21671392)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 0/8. (PMID:21671392)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 8/8. (PMID:21671392)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. (PMID:21671392)
- Vitreoretinopathy (HP:0007773, a Human Phenotype Ontology term): Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. Evidence: PCS. Frequency: 8/8. (PMID:21671392)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:21671392)
- Midface retrusion (HP:0011800, a Human Phenotype Ontology term): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 8/8. (PMID:21671392)
- High myopia (HP:0011003, a Human Phenotype Ontology term): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 8/8. (PMID:21671392)
- Pierre-Robin sequence (HP:0000201, a Human Phenotype Ontology term): Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. Evidence: PCS. Frequency: 0/8. (PMID:21671392)
These phenotypes are associated with the disease Stickler syndrome, type 5 (OMIM:614284, an entry in Online Mendelian Inheritance in Man).