Phenotypes associated with the disease leukoencephalopathy with vanishing white matter 5 (OMIM:620315):
- Progressive neurologic deterioration (HP:0002344). Evidence: PCS. Frequency: 4/4. (PMID:17646634)
- Dilated third ventricle (HP:0007082): An increase in size of the third ventricle. Evidence: PCS. Frequency: 1/4. (PMID:17646634)
- Lateral ventricle dilatation (HP:0006956). Evidence: PCS. Frequency: 1/4. (PMID:17646634)
- Megalencephaly (HP:0001355): Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia). Evidence: PCS. Frequency: 3/4. (PMID:17646634)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/4. (PMID:17646634)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/4. (PMID:17646634)
- Decreased CSF asialotransferrin to transferrin ratio (HP:6000447): The concentration of asialotransferrin relative to that of transferrin in the cerebrospinal fluid (CSF) is below the lower limit of normal. Evidence: PCS. Frequency: 7/7. (PMID:18519871)
- 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:11704758)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: PCS. Frequency: 1/4. (PMID:17646634)
- Abnormal cerebral white matter morphology (HP:0002500): An abnormality of the cerebral white matter. Evidence: PCS. Frequency: 1/4. (PMID:17646634)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: PCS. Frequency: 3/4. (PMID:17646634)