infantile neuronal ceroid lipofuscinosis 5 (Finnish variant, late-infantile neuronal ceroid lipofuscinosis)

Genetics

• associated with defects in CLN5 gene

Clinical manifestations

• fatal childhood neurodegenerative disease
• progressive visual & mental decline
• motor disturbance
• epilepsy
• behavioral changes
• first symptom is motor clumsiness, followed by
  • progressive visual failure
  • mental & motor deterioration
  • later, myoclonia & seizures

Laboratory

• CLN5 gene mutation

More general terms

• infantile neuronal ceroid lipofuscinosis (INCL)

Additional terms

• ceroid-lipofuscinosis neuronal protein 5 (CLN5)

Database

• OMIM: https://mirror.omim.org/entry/256731