syndrome autosomique récessif de leucoencéphalopathie-infarctus cérébraux-rétinite pigmentaire
A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions on brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, a
SNOMEDCT-BE (disorder) / 771476007
SNOMEDCT-BE (hypertelorism, a / 771476007