neuronal ceroid lipofuscinosis 9

Summary
Synonym
  • CLN9
Definition
A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures.
Super Class
autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
Disease Ontology
DOID:0110733
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source
22901 ARSG arylsulfatase G
The Human Phenotype Ontology
Displaying entries 11 - 20 of 40 in total
HPO ID HPO Term
HP:0000975 Hyperhidrosis
HP:0001129 Large central visual field defect
HP:0001250 Seizure
HP:0001272 Cerebellar atrophy
HP:0001300 Parkinsonism
HP:0001348 Brisk reflexes
HP:0001627 Abnormal heart morphology
HP:0001649 Tachycardia
HP:0002015 Dysphagia
HP:0002059 Cerebral atrophy
Displaying 1 entry
Gene ID Gene Symbol Description
5538 PPT1 palmitoyl-protein thioesterase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024