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Human Disease

neuronal ceroid lipofuscinosis 8

Term ID
DOID:0110723
Synonyms
  • CLN8
Definition
A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. (3)
References
Ontology
Human Disease   ( DOID:0110723 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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