CEROID LIPOFUSCINOSIS, NEURONAL, 9 | |
CLN9; | |
609055
OMIM = Online Mendelian Inheritance of Men | |
228357 | |
E75.4 | |
rare autosomal recessive | |
Laboratory findings | Lymphocytes, vacuoles (blood) |
Symptoms | ataxia cerebral atrophy defect of walking, running, rising or climbing dysarthria early death EEG abnormalities [-] Electron microscopy [-] mental retardation MRI, brain, abnormalities [-] onset, childhood optic atrophy psychomotor retardation retinitis pigmentosa seizures |