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juvenile neuronal ceroid lipofuscinosis

Disease Summary
Associated Targets (8)
Tbio

6

Tclin

1

Tchem

1


Mondo Description Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.
Mondo Term and Equivalent IDs
MONDO:0019262:  juvenile neuronal ceroid lipofuscinosis
DOID:0050756: 
Orphanet:79264: 
SCTID:61663001: