TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: Seizures, Focal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.120 Biomarker phenotype BEFREE Our series suggests that TBC1D24-related epilepsy can manifest with hypotonia, developmental delays, and a variety of focal-onset seizures prone to electroclinical dissociation. 27502353 2016
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.120 GeneticVariation phenotype BEFREE Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. 23526554 2013
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.120 Biomarker phenotype HPO