- Retinoschisis (HP:0030502): Splitting of the neuroretinal layers of the retina. Evidence: PCS. Frequency: 1/6. (PMID:23707145)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/6. (PMID:23707145)
- Action tremor (HP:0002345): A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. Evidence: PCS. Frequency: 2/6. (PMID:23707145)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 2/6. (PMID:23707145)
- Visual field defect (HP:0001123). Evidence: PCS. Frequency: 4/6. (PMID:23707145)
- Choroidal neovascularization (HP:0011506): Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium. Evidence: PCS. Frequency: 1/6. (PMID:23707145)
- Gait ataxia (HP:0002066): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: PCS. Frequency: 2/6. (PMID:23707145)
- Leukoencephalopathy (HP:0002352): This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. Evidence: PCS. (PMID:23707145)
- Limb ataxia (HP:0002070): A kind of ataxia that affects movements of the extremities. Evidence: PCS. Frequency: 6/6. (PMID:23707145)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/6. (PMID:23707145)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:23707145)
- Late young adult onset (HP:0025710): Onset of disease at an age of greater than or equal to 25 to under 40 years. Evidence: PCS. Frequency: 1/6. (PMID:23707145)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. Frequency: 3/6. (PMID:23707145)
- Optic neuropathy (HP:0001138). Evidence: PCS. Frequency: 2/6. (PMID:23707145)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: PCS. Frequency: 1/6. (PMID:23707145)
These phenotypes are associated with the disease leukoencephalopathy with mild cerebellar ataxia and white matter edema (OMIM:615651).