congenital neuronal ceroid lipofuscinosis
MONDO:0850001Mondo
Findings
No curated finding names congenital neuronal ceroid lipofuscinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0850001), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of