|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production. (Orphanet Rare Disease Ontology, Orphanet_247604)|
|Downloads & Tools|
1 genes associated with the Juvenile primary lateral sclerosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|ALS2||amyotrophic lateral sclerosis 2 (juvenile)|