- Cranial nerve paralysis (HP:0006824). Evidence: IEA. (OMIM:220200)
- Truncal ataxia (HP:0002078): Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. Evidence: IEA. (OMIM:220200)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: IEA. (OMIM:220200)
- Dilated fourth ventricle (HP:0002198): An abnormal dilatation of the fourth cerebral ventricle. Evidence: IEA. (OMIM:220200)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: IEA. (OMIM:220200)
- Thinning and bulging of the posterior fossa bones (HP:0000931). Evidence: IEA. (OMIM:220200)
- Posterior fossa cyst at the fourth ventricle (HP:0000933). Evidence: IEA. (OMIM:220200)
- Sporadic (HP:0003745): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: TAS. (OMIM:220200)
- Elevated imprint of the transverse sinuses (HP:0000930). Evidence: IEA. (OMIM:220200)
- Partial absence of cerebellar vermis (HP:0002951): Congenital absence of a part of the vermis of cerebellum. Evidence: TAS. (OMIM:220200)
- Agenesis of cerebellar vermis (HP:0002335): Congenital absence of the vermis of cerebellum. Evidence: TAS. (OMIM:220200)
These phenotypes are associated with the disease Dandy-Walker syndrome (OMIM:220200).