Cobblestone lissencephaly

Disease Term Disease ID Gene Symbol Classification References Source
COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT
352682MONDO:0014077C5191415
LAMB1 Causal
23472759
ClinGen ClinVar GenCC Orphanet
TMTC3 Unknown
27773428 28973161 33293961
Orphanet