- 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: PCS. Frequency: 3/3. (PMID:25192046)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/4. (PMID:25192046)
- Decreased circulating luteinizing hormone level (HP:0030344): A reduction in the circulating level of luteinizing hormone (LH). Evidence: PCS. Frequency: 4/4. (PMID:25192046)
- Decreased circulating follicle stimulating hormone concentration (HP:0030341): A reduction of the circulating level of follicle-stimulating hormone (FSH). Evidence: PCS. Frequency: 4/4. (PMID:25192046)
- Decreased serum testosterone concentration (HP:0040171). Evidence: PCS. Frequency: 2/2. (PMID:25192046)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/4. (PMID:25192046)
- 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: 4/4. (PMID:25192046)
- 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:25192046)
- Decreased serum estradiol (HP:0008214): A reduction below normal concentration of estradiol in the circulation. Evidence: PCS. Frequency: 1/1. (PMID:25192046)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: PCS. Frequency: 3/3. (PMID:25192046)
- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: PCS. Frequency: 4/4. (PMID:25192046)
- Reduced response to gonadotropin-releasing hormone stimulation test (HP:0020159): Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels. Evidence: PCS. Frequency: 1/1. (PMID:25192046)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 3/3. (PMID:25192046)
- Primary amenorrhea (HP:0000786). Evidence: PCS. Frequency: 1/1. (PMID:25192046)
These phenotypes are associated with the disease hypogonadotropic hypogonadism 22 with or without anosmia (OMIM:616030).