- Hypotropia (HP:0025584): A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. Evidence: PCS. Frequency: 3/5. (PMID:29887215)
- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: PCS. Frequency: 4/4. (PMID:29887215)
- Pseudoarthrosis (HP:0005864): A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint"). Evidence: PCS. Frequency: 1/5. (PMID:29887215)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 5/5. (PMID:29887215)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 4/4. (PMID:29887215)
- Basilar invagination (HP:0012366): Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama). Evidence: PCS. Frequency: 2/5. (PMID:29887215)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 4/5. Onset: Congenital onset (HP:0003577). (PMID:29887215)
- Missing ribs (HP:0000921): A developmental anomaly with absence of one or more ribs. Evidence: PCS. Frequency: 1/3. (PMID:29887215)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: IEA. (OMIM:618155)
- 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:29887215)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: PCS. Frequency: 1/5. (PMID:29887215)
- Short ribs (HP:0000773): Reduced rib length. Evidence: PCS. Frequency: 3/3. (PMID:29887215)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: PCS. Frequency: 4/5. (PMID:29887215)
- External ophthalmoplegia (HP:0000544): Paralysis of the external ocular muscles. Evidence: PCS. Frequency: 5/5. Onset: Congenital onset (HP:0003577). (PMID:29887215)
These phenotypes are associated with the disease ophthalmoplegia, external, with rib and vertebral anomalies (OMIM:618155).