Phenotypes associated with the disease scoliosis, isolated, susceptibility to, 6 (OMIM:621428, an entry in Online Mendelian Inheritance in Man):
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. (PMID:37962965)
- Hyperglycinemia (HP:0002154, a Human Phenotype Ontology term): An elevated concentration of glycine in the blood. Evidence: PCS. (PMID:37962965)
- 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: PCS. (PMID:37962965)