Phenotypes associated with the disease 46,XY sex reversal 5 (OMIM:613080):
- Abnormal female external genitalia morphology (HP:0000055): Any structural abnormality of the female external genitalia. Evidence: PCS. Frequency: 0/1. (PMID:19361780)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:19361780)
- Sex reversal (HP:0012245): Development of the reproductive system is inconsistent with the chromosomal sex. Evidence: PCS. Frequency: 1/1. (PMID:19361780)
- Abnormal circulating luteinizing hormone concentration (HP:0030345): An anomaly of the circulating level of luteinizing hormone (LH). Evidence: PCS. Frequency: 0/1. (PMID:19361780)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 1/1. (PMID:19361780)
- 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:19361780)
- Abnormality of circulating cortisol level (HP:0011731): An abnormality of the concentration of cortisol in the blood. Evidence: PCS. Frequency: 0/1. (PMID:19361780)