- 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:1436)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1436)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1436)
- Fused cervical vertebrae (HP:0002949): A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1436)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1436)
- Abnormal sacrum morphology (HP:0005107): An abnormality of the sacral bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1436)
- Short middle phalanx of finger (HP:0005819): Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1436)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1436)
- Thoracic hemivertebrae (HP:0008467): Absence of one half of the vertebral body in the thoracic spine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1436)
These phenotypes are associated with the disease X-linked skeletal dysplasia-intellectual disability syndrome (ORPHA:1436).