Terminology Service for NFDI4Health

neuronal ceroid lipofuscinosis 4A

Go to external page http://purl.obolibrary.org/obo/DOID_0110730


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

Label

neuronal ceroid lipofuscinosis 4A

Synonyms
  • CLN4A
  • autosomal recessive neuronal ceroid lipofuscinosis 4A
database cross reference
has obo namespace

disease_ontology

id

DOID:0110730