- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/4. (PMID:18628520)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/4. (PMID:18628520)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 1/4. (PMID:18628520)
- Precocious puberty (HP:0000826): The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. Evidence: PCS. Frequency: 1/4. (PMID:18628520)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 1/4. (PMID:18628520)
- Infertility (HP:0000789). Evidence: PCS. Frequency: 2/3. (PMID:18628520)
- Oligomenorrhea (HP:0000876): Infrequent menses (less than 6 per year or more than 35 days between cycles). Evidence: PCS. Frequency: 1/3. (PMID:18628520)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:18628520)
- Acne (HP:0001061): A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). Evidence: PCS. Frequency: 1/4. (PMID:18628520)
- Late young adult onset (HP:0025710): Onset of disease at an age of greater than or equal to 25 to under 40 years. Evidence: PCS. Frequency: 1/4. (PMID:18628520)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. (OMIM:604931)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: PCS. Frequency: 3/4. (PMID:18628520)
These phenotypes are associated with the disease cortisone reductase deficiency 1 (OMIM:604931).