OnlineIMD
TBC1D24 deficiency
Type
Disease
External link(s)
IEMbase
Gene
TBC1D24
/ TBC1 Domain Family Member 24
16p13.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Tre-2/Bub2/Cdc16 domain family member 24
Disease group(s)
23.6 Disorders of the synaptic vesicle cycle
Child entries
DOORS syndrome
Progressive myoclonic epilepsy with dystonia
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome