- Prostatitis (HP:0000024): The presence of inflammation of the prostate. Evidence: IEA. (OMIM:307200)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: IEA. (OMIM:307200)
- 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: PCS. Frequency: 4/4. (PMID:7189577)
- Infectious encephalitis (HP:0002383): A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity. Evidence: IEA. (OMIM:307200)
- Abnormal total T cell number (HP:0011839): Abnormal increase or decrease of absolute number (either count per volume or proportion of total lymphocytes) of T cells or of a subset of T cells, commonly characterized as CD3+ lymphocytes, in the blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: PCS. Frequency: 0/4. (PMID:22351933)
- Septic arthritis (HP:0003095). Evidence: IEA. (OMIM:307200)
- Enteroviral dermatomyositis syndrome (HP:0003729). Evidence: IEA. (OMIM:307200)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: TAS. (OMIM:307200)
- Pyoderma (HP:0000999): Any manifestation of a skin disease associated with the production of pus. Evidence: IEA. (OMIM:307200)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: IEA. (OMIM:307200)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: IEA. (OMIM:307200)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: IEA. (OMIM:307200)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: PCS. Frequency: 4/4. (PMID:7189577)
- Epididymitis (HP:0000031): The presence of inflammation of the epididymis. Evidence: IEA. (OMIM:307200)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: IEA. (OMIM:307200)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:7189577)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: PCS. Frequency: 2/4. (PMID:22351933)
- Absent circulating B cells (HP:0030252): Absence of detectable circulating B cells, commonly characterized as CD19+ or CD20+ lymphocytes, in the blood. Usually, less than 20 cells per microlitre is considered to be an absence. Evidence: PCS. Frequency: 3/4. (PMID:22351933)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: IEA. Frequency: 2/4. (PMID:22351933)
- Decreased response to growth hormone stimulation test (HP:0000824): Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. Evidence: PCS. Frequency: 2/4. (PMID:22351933)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: PCS. Frequency: 2/2. (PMID:7189577)
- Sinusitis (HP:0000246): Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. Evidence: IEA. (OMIM:307200)
- Enteroviral hepatitis (HP:0001412): Inflammation of the liver due to infection with enterovirus. Evidence: IEA. (OMIM:307200)
- Recurrent enteroviral infections (HP:0002743): Increased susceptibility to enteroviral infections as manifested by recurrent episodes of enteroviral infection. Evidence: TAS. (OMIM:307200)
- Panhypogammaglobulinemia (HP:0003139): A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. Evidence: PCS. Frequency: 3/4. (PMID:22351933)
These phenotypes are associated with the disease isolated growth hormone deficiency type III (OMIM:307200).