Phenotypes associated with the disease ovarian dysgenesis 6 (OMIM:618078):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 5/5. (PMID:26485283)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: PCS. Frequency: 5/5. (PMID:26485283)
- Hypergonadotropic hypogonadism (HP:0000815): Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. Evidence: PCS. Frequency: 5/5. (PMID:26485283)
- Absence of pubertal development (HP:0008197). Evidence: PCS. Frequency: 5/5. (PMID:26485283)
- 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:26485283)
- Primary amenorrhea (HP:0000786). Evidence: PCS. Frequency: 5/5. (PMID:26485283)