- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2285)
- Abnormality of eye movement (HP:0000496): An abnormality in voluntary or involuntary eye movements or their control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2285)
- Abnormality of the pharynx (HP:0000600): An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2285)
- Abnormality of the voice (HP:0001608). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2285)
- Platybasia (HP:0002691): A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2285)
- Abnormality of the cervical spine (HP:0003319): Any abnormality of the cervical vertebral column. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2285)
- Abnormal vertebral morphology (HP:0003468): An abnormality of one or more of the vertebrae. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2285)
- Basilar impression (HP:0005758): Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2285)
These phenotypes are associated with the disease Primary basilar invagination (ORPHA:2285).