- 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: IEA. (OMIM:273150)
- Hypoplastic male external genitalia (HP:0000050): Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). Evidence: IEA. (OMIM:273150)
- 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: IEA. (OMIM:273150)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: IEA. (OMIM:273150)
These phenotypes are associated with the disease testes, rudimentary (OMIM:273150).