- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. (OMIM:229070)
- Decreased muscle mass (HP:0003199). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:229070)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: PCS. Frequency: 2/2. (PMID:9280841;PMID:9271483)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:9280841)
- Decreased circulating follicle stimulating hormone concentration (HP:0030341): A reduction of the circulating level of follicle-stimulating hormone (FSH). Evidence: PCS. Frequency: 2/2. (PMID:9280841;PMID:9271483)
- Infertility (HP:0000789). Evidence: PCS. Frequency: 1/1. (PMID:9280841)
- 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:8220432)
- Abnormality of the sense of smell (HP:0004408): An anomaly in the ability to perceive and distinguish scents (odors). Evidence: PCS. Frequency: 0/1. (PMID:8220432)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. (OMIM:229070)
- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: IEA. (OMIM:229070)
- Primary amenorrhea (HP:0000786). Evidence: PCS. Frequency: 2/2. (PMID:9271483;PMID:8220432)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: IEA. (OMIM:229070)
These phenotypes are associated with the disease hypogonadotropic hypogonadism 24 without anosmia (OMIM:229070).