- Abnormality of skull ossification (HP:0002703): An abnormality of the process of ossification of the skull. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85175)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85175)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85175)
- Epiphyseal stippling (HP:0010655): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85175)
These phenotypes are associated with the disease Astley-Kendall dysplasia (ORPHA:85175).