Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1974
|
| gptkbp:frequencyInAshkenaziJewishPopulation |
higher
|
| https://www.w3.org/2000/01/rdf-schema#label |
mucolipidosis type IV
|
| gptkbp:ICD-10_code |
E75.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:MCOLN1_gene
|
| gptkbp:namedAfter |
lysosomal storage and mucolipin protein defect
|
| gptkbp:OMIM |
252650
|
| gptkbp:onset |
infancy
|
| gptkbp:otherName |
gptkb:ML4
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
intellectual disability
developmental delay gastrointestinal problems corneal clouding muscle hypotonia progressive vision loss |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:ML4
|
| gptkbp:bfsLayer |
6
|