| CEROID LIPOFUSCINOSIS, NEURONAL, 10 | |
| CLN10; CEROID LIPOFUSCINOSIS, NEURONAL, CATHEPSIN D-DEFICIENT | |
|
610127
OMIM = Online Mendelian Inheritance of Men | |
|
228337 | |
| Cathepsin D | |
| 3.4.23.5 | |
| rare autosomal recessive mutation in the cathepsin D gene | |
| Laboratory findings | |
| Symptoms | abnormal movement apnea ataxia blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia cerebral atrophy developmental regression EEG abnormalities [-] Electron microscopy [-] epilepsy hypertonia, spasticity low set ears mental retardation microcephaly (<2 SD for age) MRI, brain, abnormalities [-] muscular rigidity myoclonus onset, adolescent onset, childhood onset, fetus onset, infancy onset, neonatal onset, variable age optic atrophy respiratory insufficiency retinitis pigmentosa retinopathy seizures speech development, delayed, abnormal VEP (visual evoked potentials), abnormal |