- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3344)
- Abnormal fibula morphology (HP:0002991): An anomaly of the calf bone (fibula), one of the two bones of the calf. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3344)
- Abnormal tibia morphology (HP:0002992): Abnormality of the tibia (shinbone). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3344)
- Abnormal cortical bone morphology (HP:0003103): An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3344)
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3344)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3344)
- Fibular bowing (HP:0010502): A bending or abnormal curvature of the fibula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3344)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3344)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3344)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3344)
- Abnormal femur morphology (HP:0002823): Any anomaly of the structure of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3344)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3344)
- Squared iliac bones (HP:0003177): A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3344)
- Abnormal hip bone morphology (HP:0003272): An abnormality of the hip bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3344)
- Abnormal vertebral body morphology (HP:0003312): Abnormal form of vertebral body, which is the central cylindrical portion of the vertebra that together with other structures such as the vertebral arch, pedicles, laminae, spinous process, transverse processes, and articular facets makes up a vertebra. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3344)
- Abnormality of the thyroid gland (HP:0000820): An abnormality of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3344)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3344)
- Aplasia/Hypoplasia of the radius (HP:0006501): A small/hypoplastic or absent/aplastic radius. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3344)
- 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: Occasional (HP:0040283). (ORPHA:3344)
- Abnormal humerus morphology (HP:0031095): Any structural anomaly of the structure of the humerus (i.e., upper arm bone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3344)
These phenotypes are associated with the disease Weismann-Netter syndrome (ORPHA:3344).