Also known as PARK9, autosomal recessive Parkinson disease 9, autosomal recessive juvenile onset Parkinson disease 9, Parkinson Disease 9, Autosomal Recessive, Ceroid Lipofuscinosis, Neuronal, 12, KUFOR-RAKEB SYNDROME; KRS, Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis and Dementia
via PubMed
Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).