neuronal ceroid lipofuscinosis 2 (Q32140590)
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A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
- CLN2
- neuronal ceroid lipofuscinosis 2 variable age at onset
- neuronal ceroid lipofuscinosis type 2
- Ceroid Lipofuscinosis, Neuronal, type 2
- CLN2 disease
- CEROID LIPOFUSCINOSIS, NEURONAL, 2
- Jansky-Bielschowsky Disease
- Ceroid Lipofuscinosis, Neuronal, 2, Variable Age at Onset
- CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2
- Neuronal Ceroid Lipofuscinosis, Late Infantile
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | neuronal ceroid lipofuscinosis 2 |
A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. |
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C85864
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