- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:935)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:935)
- Abnormal metaphysis morphology (HP:0000944): An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:935)
- Abnormality of the pancreas (HP:0001732): An abnormality of the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:935)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:935)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:935)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:935)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:935)
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:935)
- Aganglionic megacolon (HP:0002251): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:935)
- Long fibula (HP:0003085): Disproportionately long fibulae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:935)
- Reduced bone mineral density (HP:0004349): A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:935)
- Biparietal narrowing (HP:0004422): A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:935)
- Severe combined immunodeficiency (HP:0004430): A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:935)
- Agammaglobulinemia (HP:0004432): A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:935)
- Cellular immunodeficiency (HP:0005374): An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:935)
- White hair (HP:0011364): Hypopigmented hair that appears white. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:935)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:935)
These phenotypes are associated with the disease Short-limb skeletal dysplasia with severe combined immunodeficiency (ORPHA:935).