Disease Term Disease ID Gene Symbol References
Cobblestone Lissencephaly C0431376 FKTN
LAMB1
LARGE1
RXYLT1
TUBB3
POMT1
B4GAT1
GMPPB
POMT2
POMGNT1
FKRP
POMK
POMGNT2
B3GALNT2
TMTC3 27773428
CRPPA