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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease lissencephaly
Comorbidity C0026850|muscular dystrophies
Sentences 2
PubMedID- 26060116 Aberrant glycosylation of dystroglycan causes congenital muscular dystrophies associated with cobblestone lissencephaly, classified as dystroglycanopathy.
PubMedID- 20680099 Congenital muscular dystrophies (cmds) with type ii lissencephaly and retinal malformations include walker–warburg syndrome (wws), muscle-eye-brain disease (meb), fukuyama congenital muscular dystrophy (fcmd), and congenital muscular dystrophy 1d (mdc1d) [1-13].

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