| CEROID LIPOFUSCINOSIS, NEURONAL, 3 (CLN3) | |
| CLN3; BATTEN DISEASE; VOGT-SPIELMEYER DISEASE | |
|
204200
OMIM = Online Mendelian Inheritance of Men | |
|
228346 | |
| Battenin | |
| rare autosomal recessive mutation in the CLN3 gene | |
| Laboratory findings | |
| Symptoms | behavior, aggressive behavior, anxiety blindness, visual loss, visual impairment cardiac arrhythmia, dysrhythmia cardiomyopathy, hypertrophic cataract cerebellar atrophy or hypoplasia cerebral atrophy cognitive impairment dementia depression developmental regression dysarthria EEG abnormalities [-] gait disturbance glaucoma hypokinesia mental retardation MRI, brain, white matter abnormalities [-] myoclonus onset, childhood optic atrophy Parkinsonism psychomotor retardation psychosis retinitis pigmentosa retinopathy seizures seizures, tonic clonic VEP (visual evoked potentials), abnormal white matter changes, abnormalities |