Congenital neuronal ceroid lipofuscinosis

Orpha code: 168486OMIM code: 610127

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.

Disease data
Classification

Disease

Synonyms
Congenital NCL
Wrodzona NCL
ORPHA code
168486
OMIM code
610127
ICD10 code
E75.4
ICD11 code
5C56.1

No additional description.

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