Late infantile neuronal ceroid lipofuscinosis

Orpha code: 168491OMIM code: 256730

Definition

A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.

Disease data
Classification

Disease

Synonyms
Jansky-Bielschowsky disease
Choroba Jansky'ego i Bielschowsky'ego
LINCL
Późnodziecięca NCL
LINCL
Late infantile NCL
ORPHA code
168491
OMIM code
256730
ICD10 code
E75.4
ICD11 code
5C56.1

No additional description.

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