Phenotypes associated with the disease primary basilar invagination (OMIM:109500):
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: IEA. (OMIM:109500)
- Horner syndrome (HP:0002277): An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection. Evidence: IEA. (OMIM:109500)
- Syringomyelia (HP:0003396): Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. Evidence: TAS. (OMIM:109500)
- Craniofacial asymmetry (HP:0004484): Asymmetry of the bones of the skull and the face. Evidence: IEA. (OMIM:109500)
- Variable expressivity (HP:0003828): A variable severity of phenotypic features. Evidence: TAS. (OMIM:109500)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: IEA. (OMIM:109500)
- Platybasia (HP:0002691): A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. Evidence: IEA. (OMIM:109500)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: IEA. (OMIM:109500)
- Limb muscle weakness (HP:0003690): Reduced strength and weakness of the muscles of the arms and legs. Evidence: IEA. (OMIM:109500)
- Cervical myelopathy (HP:0002318): A collection of pathologic conditions that result from progressive spinal cord dysfunction secondary to cord compression in the cervical spine. Evidence: IEA. (OMIM:109500)
- Basilar impression (HP:0005758): Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. Evidence: IEA. (OMIM:109500)
- 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: IEA. (OMIM:109500)