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Disease Ontology Browser
neuronal ceroid lipofuscinosis 4A (DOID:0110730)
Alliance: disease page
Synonyms: autosomal recessive neuronal ceroid lipofuscinosis 4A; CLN4A
Alt IDs: OMIM:204300, ICD10CM:E75.4, ORDO:228340
Definition: A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive dementia, seizures, and progressive visual failure and lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory