Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57731
Gene Symbol: SPTBN4
SPTBN4
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		0.010 GeneticVariation 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