- Ambiguous genitalia, female (HP:0000061): Ambiguous genitalia in an individual with XX genetic gender. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2975)
- Fused labia minora (HP:0000063): Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2975)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2975)
- Primary amenorrhea (HP:0000786). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2975)
- Dislocated radial head (HP:0003083): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2975)
- Deformed humerus (HP:0003871). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2975)
- Mandibular condyle hypoplasia (HP:0007628). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2975)
- Hypoplasia of the premaxilla (HP:0010650): An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2975)
- Increased size of the clitoris (HP:0040253). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2975)
These phenotypes are associated with the disease 46,XX difference of sex development-skeletal anomalies syndrome (ORPHA:2975).
The following phenotypes are NOT associated with this disease:
- Abnormality of the uterus (HP:0000130): An abnormality of the uterus. Evidence: TAS. (ORPHA:2975)
- Abnormality of the ovary (HP:0000137): An abnormality of the ovary. Evidence: TAS. (ORPHA:2975)
- Abnormal vagina morphology (HP:0000142): Any structural abnormality of the vagina. Evidence: TAS. (ORPHA:2975)