Phenotypes associated with the disease cervical vertebral dysplasia (OMIM:118005):
- Anterior atlanto-occipital dislocation (HP:0005678). Evidence: TAS. (OMIM:118005)
- Cervical vertebral facet hypoplasia (HP:0008461). Evidence: TAS. (OMIM:118005)
- Cervical vertebral dysplasia (HP:0008469): Dysplasia of the cervical vertebral column. Evidence: TAS. (OMIM:118005)
- 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: TAS. (OMIM:118005)