Phenotypes associated with the disease lessel-kubisch syndrome (OMIM:618681, an entry in Online Mendelian Inheritance in Man):
- Renal hypoplasia (HP:0000089, a Human Phenotype Ontology term): Hypoplasia of the kidney. Evidence: PCS. Frequency: 1/1. (PMID:28846075)
- Short stature (HP:0004322, a Human Phenotype Ontology term): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 1/1. (PMID:28846075)
- Renal insufficiency (HP:0000083, a Human Phenotype Ontology term): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: PCS. Frequency: 1/1. (PMID:28846075)
- Narrow mouth (HP:0000160, a Human Phenotype Ontology term): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: PCS. Frequency: 1/1. (PMID:28846075)
- Hypertension (HP:0000822, a Human Phenotype Ontology term): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/1. (PMID:28846075)
- 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:28846075)
- Premature graying of hair (HP:0002216, a Human Phenotype Ontology term): Development of gray hair at a younger than normal age. Evidence: PCS. Frequency: 1/1. (PMID:28846075)
- Abnormally high-pitched voice (HP:0001620, a Human Phenotype Ontology term): A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual. Evidence: PCS. Frequency: 1/1. (PMID:28846075)
- Hypogonadism (HP:0000135, a Human Phenotype Ontology term): A decreased functionality of the gonad. Evidence: PCS. Frequency: 1/1. (PMID:28846075)
- Sparse pubic hair (HP:0002225, a Human Phenotype Ontology term): Reduced number or density of pubic hair. Evidence: PCS. Frequency: 1/1. (PMID:28846075)
- Narrow nasal bridge (HP:0000446, a Human Phenotype Ontology term): Decreased width of the bony bridge of the nose. Evidence: PCS. Frequency: 1/1. (PMID:28846075)