Phenotypes associated with the disease 46,xx sex reversal 5 (OMIM:618901):
- Secundum atrial septal defect (HP:0001684): A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. Evidence: PCS. Frequency: 1/3. (PMID:29478779)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 1/3. (PMID:29478779)
- 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: PCS. Frequency: 3/3. (PMID:29478779)
- Aplasia of the left hemidiaphragm (HP:0009112): Congenital absence of the left half of the diaphragm. Evidence: PCS. Frequency: 1/3. (PMID:29478779)
- Urogenital sinus anomaly (HP:0100779): A rare birth defect in women where the urethra and vagina both open into a common channel. Evidence: PCS. Frequency: 1/3. (PMID:29478779)
- Increased serum testosterone level (HP:0030088): An elevated circulating testosterone level in the blood. Evidence: PCS. Frequency: 3/3. (PMID:29478779)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: PCS. Frequency: 1/3. (PMID:29478779)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:29478779)