Cobblestone lissencephaly

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT
352682MONDO:0014077C5191415
LAMB1 Causal
23472759 29888467 34606115 32548278 25925986
ClinGen, ClinVar, GenCC, Orphanet, Disgenet
TMTC3 Unknown
27773428 28973161 33293961
Orphanet —
All2 Causal1 Unknown1
Related Diseases Diseases that share the most curated genes with Cobblestone lissencephaly.
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Corneal disease 1 shared geneLAMB1 Related via 1 shared gene including LAMB1. Periventricular nodular heterotopia 1 shared geneTMTC3 Related via 1 shared gene including TMTC3. Macrogyria 2 shared genesLAMB1, TMTC3 Related via 2 shared genes including LAMB1, TMTC3. Coloboma 1 shared geneLAMB1 Related via 1 shared gene including LAMB1. Fuchs endothelial dystrophy 1 shared geneLAMB1 Related via 1 shared gene including LAMB1.