Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation.
Boltshauser
Eugen
E
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities*; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology; D007621:Karyotyping; D013577:Syndrome