Phenotypes associated with the disease hypogonadotropic hypogonadism 21 with or without anosmia (OMIM:615271):
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: PCS. (PMID:23643382)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:23643382)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. (PMID:23643382)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. (PMID:23643382)
- Hyposmia (HP:0004409): A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). Evidence: PCS. (PMID:23643382)
- Oligogenic inheritance (HP:0010983): A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform. Evidence: PCS. (PMID:23643382)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: PCS. (PMID:23643382)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: PCS. (PMID:23643382)
- 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:23643382)