Phenotypes associated with the disease diabetes, deafness, developmental delay, and short stature syndrome (OMIM:620651, an entry in Online Mendelian Inheritance in Man):
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 2/2. (PMID:33500254)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/2. (PMID:33500254)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/2. (PMID:33500254)
- 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: 2/2. (PMID:33500254)
- Alopecia (HP:0001596, a Human Phenotype Ontology term): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 1/2. (PMID:33500254)
- Decreased circulating luteinizing hormone level (HP:0030344, a Human Phenotype Ontology term): A reduction in the circulating level of luteinizing hormone (LH). Evidence: PCS. Frequency: 1/2. (PMID:33500254)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 2/2. (PMID:33500254)
- Decreased circulating follicle stimulating hormone concentration (HP:0030341, a Human Phenotype Ontology term): A reduction of the circulating level of follicle-stimulating hormone (FSH). Evidence: PCS. Frequency: 1/2. (PMID:33500254)
- Reduced circulating growth hormone concentration (HP:0034323, a Human Phenotype Ontology term): Concentration of growth hormone in the blood circulation below normal limits. Evidence: PCS. Frequency: 1/2. (PMID:33500254)
- Hypopituitarism (HP:0040075, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/2. (PMID:33500254)
- High myopia (HP:0011003, a Human Phenotype Ontology term): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 1/2. (PMID:33500254)
- 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: 1/2. (PMID:33500254)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 2/2. (PMID:33500254)
- Decreased thyroid-stimulating hormone level (HP:0031098, a Human Phenotype Ontology term): Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. Evidence: PCS. Frequency: 1/2. (PMID:33500254)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/2. (PMID:33500254)
- 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:33500254)
- Type II diabetes mellitus (HP:0005978, a Human Phenotype Ontology term): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: PCS. Frequency: 2/2. (PMID:33500254)