Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:physicist
|
| gptkbp:associatedWith |
neurodegeneration
lysosomal storage disorder cellular waste accumulation lysosomal dysfunction metabolic dysfunction |
| gptkbp:causedBy |
mutation in the MCOLN1 gene
|
| gptkbp:clinicalTrials |
ongoing
hearing loss intellectual disability retinal degeneration gastrointestinal issues phase 1 phase 2 phase 3 cardiac issues skeletal abnormalities corneal clouding dysostosis multiplex |
| gptkbp:demographics |
rare disorder
|
| gptkbp:diseaseResistance |
genetic testing
|
| gptkbp:geneticDiversity |
recommended for families
|
| gptkbp:hasCapacity |
available
support groups educational materials online resources financial assistance programs |
| gptkbp:hasService |
imaging studies
clinical evaluation biochemical tests |
| https://www.w3.org/2000/01/rdf-schema#label |
Mucolipidosis IV
|
| gptkbp:impact |
children
physical therapy supportive care occupational therapy |
| gptkbp:introduced |
in the 1970s
|
| gptkbp:legalEvent |
variable
|
| gptkbp:nobleFamily |
autosomal recessive
|
| gptkbp:research |
available
prenatal testing ongoing studies carrier testing |
| gptkbp:researchFocus |
clinical trials
gene therapy enzyme replacement therapy pharmacological chaperones |
| gptkbp:symptoms |
vision problems
hypotonia joint stiffness developmental delay |