Phenotypes associated with the disease Tetragametic chimerism syndrome (ORPHA:199310):
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or 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:199310)
- Abnormal testis morphology (HP:0000035): An anomaly of the testicle (the male gonad). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- Abnormal scrotum morphology (HP:0000045): Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- Perineal hypospadias (HP:0000051): Hypospadias with location of the urethral meatus in the perineal region. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- Abnormality of the ovary (HP:0000137): An abnormality of the ovary. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- Hypopigmented skin patches (HP:0001053). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- Gonadal dysgenesis with female appearance, male (HP:0008723): Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- True hermaphroditism (HP:0010459): The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- Blood group antigen abnormality (HP:0010970): An abnormality of an erythrocyte cell surface molecule. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- Abnormal cellular immune system morphology (HP:0010987): An abnormality of the morphology or counts of the cells that make up the immune system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- Abnormality of multiple cell lineages in the bone marrow (HP:0012145). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- Ovotestis (HP:0012861): A gonad that contains both ovarian follicles and testicular tubular elements. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199310)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199310)
Not associated with this disease:
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. (ORPHA:199310)