neuronal ceroid lipofuscinosis 4A
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
neuronal ceroid lipofuscinosis 4A
- CLN4A
- autosomal recessive neuronal ceroid lipofuscinosis 4A
disease_ontology
DOID:0110730