- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3181)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3181)
- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3181)
- Abnormality of the shoulder girdle musculature (HP:0001435): A structural or functional anomaly of the shoulder girdle, which which connects the upper limb to the axial skeleton via the sternoclavicular joint. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3181)
- Abnormal shoulder morphology (HP:0003043): An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3181)
- Shoulder muscle hypoplasia (HP:0008952): Underdevelopment of muscles of the shoulder. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3181)
These phenotypes are associated with the disease Sprengel deformity (ORPHA:3181).