- Increased serum testosterone level (HP:0030088): An elevated circulating testosterone level in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99429)
- Blind vagina (HP:0040314): The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99429)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99429)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99429)
- Sparse axillary hair (HP:0002215): Reduced number or density of axillary hair. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99429)
- Absent axillary hair (HP:0002221): Absence of axillary hair. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99429)
- Sparse pubic hair (HP:0002225): Reduced number or density of pubic hair. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99429)
- Absent pubic hair (HP:0002555): Absence of pubic hair. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99429)
- Increased circulating antimullerian hormone concentration (HP:0031102): An elevation above the normal range of the antimullerian hormone in the circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99429)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99429)
- Testicular neoplasm (HP:0010788): The presence of a neoplasm of the testis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99429)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99429)
- Abnormal circulating follicle-stimulating hormone concentration (HP:0030346): An anomaly of the circulating level of follicle-stimulating hormone (FSH). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99429)
- Germ cell neoplasia (HP:0100728). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99429)
- Abnormal morphology of female internal genitalia (HP:0000008): An abnormality of the female internal genitalia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99429)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99429)
- Aplasia of the uterus (HP:0000151): A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99429)
- Primary amenorrhea (HP:0000786). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99429)
- Male infertility (HP:0003251). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99429)
- Aplasia/Hypoplasia of the fallopian tube (HP:0008655): Aplasia or developmental hypoplasia of the fallopian tube. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99429)
- Bilateral cryptorchidism (HP:0008689): Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99429)
- Female external genitalia in individual with 46,XY karyotype (HP:0008730): The presence of female external genitalia in a person with a male karyotype. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99429)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99429)
- Abnormal uterine cervix morphology (HP:0012888): An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99429)
- Increased serum estradiol (HP:0025134): An elevation above normal limits of the concentration of estradiol in the circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99429)
These phenotypes are associated with the disease Complete androgen insensitivity syndrome (ORPHA:99429).