TBCK, TBC1 domain containing kinase, 93627

N. diseases: 85; N. variants: 11
Disease: Floppy infant syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		0.020 Biomarker disease BEFREE Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3. 30103036 2019
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		0.020 GeneticVariation disease BEFREE The neurological phenotype of children with TBCK p.R126X mutations, which we call TBCK-encephaloneuronopathy (TBCKE), include congenital hypotonia, progressive motor neuronopathy, leukoencephalopathy, and epilepsy. 29283439 2018