Siblings with a progressive neurodegenerative condition associated with basal ganglia calcifications, retinitis pigmentosa and decreased levels of fucosidase--a new presentation?
D001480:Basal Ganglia Diseases / Q000150:complications* / Q000235:genetics; D002114:Calcinosis / Q000150:complications* / Q000235:genetics; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D012174:Retinitis Pigmentosa / Q000150:complications* / Q000235:genetics; D005644:alpha-L-Fucosidase / Q000172:deficiency*
D005644:alpha-L-Fucosidase