- Abnormal humerus morphology (HP:0031095): Any structural anomaly of the structure of the humerus (i.e., upper arm bone). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1275)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1275)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1275)
- Abnormal fingernail morphology (HP:0001231): An abnormality of the fingernails. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1275)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1275)
- Elbow dislocation (HP:0003042): Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1275)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1275)
- Synostosis of carpal bones (HP:0005048). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1275)
- Aplasia/Hypoplasia of the radius (HP:0006501): A small/hypoplastic or absent/aplastic radius. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1275)
- Abnormal distal phalanx morphology of finger (HP:0009832): Any anomaly of distal phalanx of finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1275)
- Abnormal morphology of ulna (HP:0040071): Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1275)
These phenotypes are associated with the disease Brachydactyly-elbow wrist dysplasia syndrome (ORPHA:1275).