- Cervical C6/C7 vertebrae fusion (HP:6000807): Fusion of cervical vertebrae at C6 and C7, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. Evidence: PCS. (PMID:17023841)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: PCS. (PMID:19864492)
- Cervical C3/C4 vertebral fusion (HP:0030281): Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. Evidence: PCS. (PMID:19864492)
- Thoracic scoliosis (HP:0002943). Evidence: PCS. (PMID:19864492)
- 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:19864492)
- Cervical C5/C6 vertebrae fusion (HP:0004635): Fusion of the C5 and C6 cervical vertebrae. Evidence: TAS. (OMIM:613702)
- Chorioretinal coloboma (HP:0000567): Absence of a region of the retina, retinal pigment epithelium, and choroid. Evidence: PCS. (PMID:19864492)
These phenotypes are associated with the disease Klippel-Feil syndrome 3, autosomal dominant (OMIM:613702).