Phenotypes associated with the disease 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (OMIM:607080, an entry in Online Mendelian Inheritance in Man):
- Hyporeflexia (HP:0001265, a Human Phenotype Ontology term): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 2/2. (PMID:25927242)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:11017805)
- Gonadal dysgenesis (HP:0000133, a Human Phenotype Ontology term): Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen. Evidence: PCS. Frequency: 1/1. (PMID:11017805)
- Impaired distal tactile sensation (HP:0006937, a Human Phenotype Ontology term): A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. Evidence: PCS. Frequency: 2/2. (PMID:25927242)
- Hypergonadotropic hypogonadism (HP:0000815, a Human Phenotype Ontology term): 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: PCS. Frequency: 2/2. (PMID:25927242)
- Polyneuropathy (HP:0001271, a Human Phenotype Ontology term): A generalized disorder of peripheral nerves. Evidence: PCS. Frequency: 3/3. (PMID:11017805;PMID:25927242)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:25927242)
- Decreased number of peripheral myelinated nerve fibers (HP:0003380, a Human Phenotype Ontology term): A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). Evidence: PCS. Frequency: 1/1. (PMID:11017805)
- Impaired distal vibration sensation (HP:0006886, a Human Phenotype Ontology term): A decrease in the ability to perceive vibration in the distal portions of the limbs. Evidence: PCS. Frequency: 2/2. (PMID:25927242)
- Primary amenorrhea (HP:0000786, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/2. Onset: Young adult onset (HP:0011462, a Human Phenotype Ontology term). (PMID:25927242)