- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 20/24. (PMID:9875048)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 7/45. (PMID:4436358)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: TAS. Frequency: Frequent (HP:0040282). (OMIM:118100)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: PCS. Frequency: 21/505. (PMID:4436358;PMID:5645110)
- Sprengel anomaly (HP:0000912): A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). Evidence: PCS. Frequency: 21/50. (PMID:4436358)
- Abnormal limb bone morphology (HP:0002813): Any abnormality of bones of the arms or legs. Evidence: PCS. Frequency: Occasional (HP:0040283). Onset: Congenital onset (HP:0003577). (PMID:18425797;PMID:16585825)
- Mixed hearing impairment (HP:0000410): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: PCS. Frequency: 5/24. (PMID:9875048)
- Congenital muscular torticollis (HP:0005988): A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. Evidence: PCS. (PMID:4436358)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: PCS. Frequency: 16/45. (PMID:4436358)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:4436358)
- Cervicomedullary schisis (HP:0030325): Fissure within the spinal cord of the neck. Evidence: PCS. (PMID:11950676)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 30/50. (PMID:4436358)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Abnormal vertebral segmentation and fusion (HP:0005640). Evidence: PCS. Frequency: Very frequent (HP:0040281). Onset: Congenital onset (HP:0003577). (PMID:18425797)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:1739048)
- Posterior fossa cyst (HP:0007291): A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 8/24. (PMID:9875048)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: PCS. Frequency: 5/19. (PMID:9702666)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: PCS. Frequency: 5/24. (PMID:9875048)
- Limited neck range of motion (HP:0000466). Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:1739048)
- Bimanual synkinesia (HP:0001335): Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand. Evidence: PCS. Frequency: 9/50. (PMID:4436358)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: PCS. (PMID:4436358)
- 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:18425797)
- Cervical C2/C3 vertebral fusion (HP:0004602): Fusion of cervical vertebrae at C2 and C3, 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. Frequency: Very frequent (HP:0040281). (PMID:18425797)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: PCS. (PMID:4436358)
These phenotypes are associated with the disease Klippel-Feil syndrome 1, autosomal dominant (OMIM:118100).