- Long philtrum (HP:0000343, a Human Phenotype Ontology term): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. (OMIM:125700)
- Decreased circulating osteocalcin level (HP:0031429, a Human Phenotype Ontology term): A reduced level of osteocalcin in the blood. Evidence: TAS. (OMIM:125700)
- Osteopenia (HP:0000938, a Human Phenotype Ontology term): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. (OMIM:125700)
- Short nose (HP:0003196, a Human Phenotype Ontology term): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. (OMIM:125700)
- Gliosis (HP:0002171, a Human Phenotype Ontology term): Gliosis is the focal proliferation of glial cells in the central nervous system. Evidence: TAS. (OMIM:125700)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. (OMIM:125700)
- Autosomal dominant inheritance (HP:0000006, 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:125700)
- Central diabetes insipidus (HP:0000863, a Human Phenotype Ontology term): A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus. Evidence: TAS. (OMIM:125700)
- Wide nose (HP:0000445, a Human Phenotype Ontology term): Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. Evidence: TAS. (OMIM:125700)
These phenotypes are associated with the disease neurohypophyseal diabetes insipidus (OMIM:125700, an entry in Online Mendelian Inheritance in Man).