SPTBN4, spectrin beta, non-erythrocytic 4, 57731

N. diseases: 35; N. variants: 10
Disease: Auditory neuropathy spectrum disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder 		0.020 GeneticVariation disease BEFREE Mutations in human βIV spectrin cause auditory neuropathy and impairment in motor coordination. 29907663 2018
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder 		0.020 GeneticVariation disease BEFREE Here, we report bi-allelic pathogenic SPTBN4 variants (three homozygous and two compound heterozygous) that cause a severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy. 29861105 2018