Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:neuronal_ceroid_lipofuscinosis neurodegenerative disease lysosomal storage disease |
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:alsoKnownAs |
Batten disease
JNCL juvenile neuronal ceroid lipofuscinosis |
| gptkbp:casualties |
yes
|
| gptkbp:category |
pediatric disease
|
| gptkbp:firstDescribed |
1905
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Spielmeyer-Vogt disease
|
| gptkbp:ICD-10_code |
E75.4
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
CLN3 gene
|
| gptkbp:namedAfter |
gptkb:Heinrich_Vogt
Walter Spielmeyer |
| gptkbp:OMIM |
204200
|
| gptkbp:onset |
childhood
|
| gptkbp:progression |
progressive
|
| gptkbp:symptom |
cognitive decline
vision loss seizures motor deterioration |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Walther_Spielmeyer
|
| gptkbp:bfsLayer |
7
|