congenital neuronal ceroid lipofuscinosis (Q55345700)
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Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy
- CEROID STORAGE DISEASE
- Congenital NCL
- Lipofuscin Storage Disease
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | congenital neuronal ceroid lipofuscinosis |
Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy |
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