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About: Rhizomelic chondrodysplasia punctata     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:WikicatPeroxisomalDisorders, within Data Space : dbpedia.org associated with source document(s)

Type: ThingFuchs' dystrophyyago:Abstraction100002137yago:Attribute100024264yago:Condition113920835yago:Disease114070360yago:Disorder114052403yago:IllHealth114052046yago:Illness114061805yago:PathologicalState114051917yago:PhysicalCondition114034177diseaseyago:State100024720yago:WikicatPeroxisomalDisorders New Facet based on Instances of this Class

Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts. The affected individuals have low levels of plasmalogens.