| CEROID LIPOFUSCINOSIS, NEURONAL, 12 | |
| CLN12; KUFOR-RAKEB SYNDROME | |
|
606693
OMIM = Online Mendelian Inheritance of Men | |
|
314632 | |
| Cation-transporting ATPase 13A2 | |
| rare autosomal recessive mutation in the ATP13A2 gene | |
| Laboratory findings | |
| Symptoms | abnormal movement anosmia ataxia behavior, aggressive cognitive impairment dementia dysarthria dystonia Electron microscopy [-] extrapyramidal signs gait disturbance hyperreflexia hypokinesia myoclonus onset, adolescent Parkinsonism psychosis pyramidal signs spastic diplegia/quadriplegia/tetraplegia torticollis tremor or twitching |