Phenotypes associated with the disease hypogonadotropic hypogonadism 9 with or without anosmia (OMIM:614838):
- Hypogonadotropic hypogonadism (HP:0000044): Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). Evidence: PCS. (PMID:15362570)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: TAS. (OMIM:614838)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. (OMIM:614838)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. (OMIM:614838)
- Bifid nose (HP:0011803): Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. Evidence: PCS. Frequency: 1/3. Onset: Congenital onset (HP:0003577). (PMID:17235395)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: TAS. (OMIM:614838)
- 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: TAS. (OMIM:614838)
- Anosmia (HP:0000458): An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. Evidence: PCS. Frequency: 1/3. (PMID:15362570)
- Hyposmia (HP:0004409): A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). Evidence: IEA. (OMIM:614838)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: PCS. (PMID:15362570)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. (OMIM:614838)
- Duane anomaly (HP:0009921): A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction. Evidence: PCS. Frequency: 1/3. (PMID:17235395)
- 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:15362570)