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 21 - 30 of 40 in total
HPO ID HPO Term
HP:0002069 Bilateral tonic-clonic seizure
HP:0002104 Apnea
HP:0002167 Abnormality of speech or vocalization
HP:0002275 Poor motor coordination
HP:0002312 Clumsiness
HP:0002333 Motor deterioration
HP:0002360 Sleep abnormality
HP:0002376 Developmental regression
HP:0002500 Abnormal cerebral white matter morphology
HP:0002505 Loss of ambulation
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