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DOID:0110730 - neuronal ceroid lipofuscinosis 4A
Disease Ontology 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.
Synonyms: CLN4A, autosomal recessive neuronal ceroid lipofuscinosis 4A,
Echinobase Genes
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Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
neuronal ceroid lipofuscinosis (is_a)