- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: PCS. Frequency: 1/1. (PMID:31085352)
- Abnormal dental enamel morphology (HP:0000682): An abnormality of the dental enamel. Evidence: PCS. Frequency: 0/1. (PMID:37065631)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. Frequency: 0/1. (PMID:37065631)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: PCS. Frequency: 0/3. (PMID:31085352)
- Decreased circulating parathyroid hormone level (HP:0031817): An abnormally decreased concentration of parathyroid hormone. Evidence: PCS. Frequency: 0/3. (PMID:31085352)
- Abnormal circulating calcium concentration (HP:0004363): Any deviation from the normal concentration of calcium in the blood circulation. Evidence: PCS. Frequency: 0/3. (PMID:31085352)
- Knee pain (HP:0030839): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. Evidence: PCS. Frequency: 2/2. (PMID:37065631;PMID:31085352)
- Broad jaw (HP:0012802): Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). Evidence: PCS. Frequency: 3/3. (PMID:31085352)
- Neck pain (HP:0030833): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. Evidence: PCS. Frequency: 1/1. (PMID:31085352)
- Hyperostosis (HP:0100774): Excessive growth or abnormal thickening of bone tissue. Evidence: PCS. Frequency: 1/1. (PMID:37065631)
- Agenesis of permanent maxillary lateral incisor (HP:0011050): Agenesis of one or more upper lateral secondary incisor. Evidence: PCS. Frequency: 3/4. (PMID:31085352)
- Osteopetrosis (HP:0011002): Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. Evidence: PCS. Frequency: 5/5. (PMID:37065631;PMID:31085352)
- Torus palatinus (HP:0100789): A bony protrusion present on the midline of the hard palate. Evidence: PCS. Frequency: 5/5. (PMID:37065631;PMID:31085352)
- Abnormal number of permanent teeth (HP:0011044): The presence of an altered number of of permanent teeth. Evidence: PCS. Frequency: 0/1. (PMID:37065631)
- Patellar dislocation (HP:0002999): The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. Evidence: PCS. Frequency: 1/1. (PMID:31085352)
- Abnormal circulating phosphate ion concentration (HP:0100529): Any deviation from the normal concentration of phosphate ion in the blood circulation. Evidence: PCS. Frequency: 0/3. (PMID:31085352)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. Frequency: 2/4. (PMID:37065631;PMID:31085352)
- Persistence of primary teeth (HP:0006335): Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. Evidence: PCS. Frequency: 0/1. (PMID:37065631)
- Spinal canal stenosis (HP:0003416): An abnormal narrowing of the spinal canal. Evidence: PCS. Frequency: 1/1. (PMID:37065631)
- Autosomal dominant inheritance (HP:0000006): 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: PCS. (PMID:31085352)
These phenotypes are associated with the disease osteopetrosis, autosomal dominant 4 (OMIM:621449).