eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | muscular dystrophy |
| Comorbidity | C0266463|lissencephaly |
| Sentences | 3 |
| PubMedID- 21421488 | Cobblestone lissencephaly presented with congenital muscular dystrophy and eye malformation, and lissencephaly with cerebellar hypoplasia showed ataxia manifestations. |
| 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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