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GTR Home > Conditions/Phenotypes > Neuronal ceroid lipofuscinosis 5

Neuronal ceroid lipofuscinosis 5

Synonyms
CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET; CLN5 Disease; CLN5-Related Neuronal Ceroid-Lipofuscinosis; NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT; Neuronal ceroid lipofuscinosis Finnish variant
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). [from OMIM]

Available tests

101 tests are in the database for this condition.

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Clinical tests (101 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: , CLN5
    Summary: CLN5 intracellular trafficking protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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