- Abnormal female external genitalia morphology (HP:0000055): Any structural abnormality of the female external genitalia. Evidence: PCS. Frequency: 0/2. (PMID:19889212)
- Hematocolpos (HP:0031923): Accumulation of blood in the vagina usually due to vaginal obstruction. Evidence: PCS. Frequency: 1/2. (PMID:19889212)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 1/2. (PMID:19889212)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/2. (PMID:19889212)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: IEA. (OMIM:277000)
- Reduced renal corticomedullary differentiation (HP:0005565): Reduced differentiation between renal cortex and medulla on diagnostic imaging. Evidence: PCS. Frequency: 1/2. (PMID:19889212)
- 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: PCS. Frequency: 1/2. (PMID:19889212)
- Aplasia of the vagina (HP:0003250): Aplasia of the vagina. Evidence: PCS. Frequency: 2/2. (PMID:19889212)
- Aplasia of the upper vagina (HP:0012673): A failure to develop of the upper vagina. Evidence: PCS. Frequency: 1/2. (PMID:19889212)
- Third trimester onset (HP:0034197): This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. Evidence: PCS. Frequency: 1/2. (PMID:19889212)
- Renal medullary hyperechogenicity (HP:0033131): Increased echogenecity of the medullary region of the kidney. Evidence: PCS. Frequency: 1/2. (PMID:19889212)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: PCS. Frequency: 1/2. (PMID:19889212)
- Unicornuate uterus (HP:0031909): A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn. Evidence: PCS. Frequency: 1/2. (PMID:19889212)
- Polycystic ovaries (HP:0000147). Evidence: PCS. Frequency: 1/2. (PMID:19889212)
- Multicystic kidney dysplasia (HP:0000003): Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. Evidence: PCS. Frequency: 1/2. (PMID:19889212)
- 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: IEA. (OMIM:277000)
- Sparse lateral eyebrow (HP:0005338): Decreased density/number and/or decreased diameter of lateral eyebrow hairs. Evidence: PCS. Frequency: 1/2. (PMID:19889212)
- Primary amenorrhea (HP:0000786). Evidence: PCS. Frequency: 1/2. (PMID:19889212)
These phenotypes are associated with the disease Mayer-Rokitansky-Kuster-Hauser syndrome type 1 (OMIM:277000).