OnlineIMD
TMTC3-CDG
Synonym(s)
Lissencephaly type 8
Type
Disease
Gene
TMTC3
/ Transmembrane and tetratricopeptide repeat containing 3
12q21.32
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Transmembrane and tetratricopeptide repeat containing 3 protein
Disease group(s)
18.2.1 Disorders of O-mannosylation