SPTBN2, spectrin beta, non-erythrocytic 2, 6712

N. diseases: 79; N. variants: 11
Disease: Abnormal behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 Biomarker phenotype BEFREE No other mutation that could possibly explain the features that were unusual for SCAR14-arched palate, limb hypotonia, climacophobia, and behavioral problems-was identified. 28636205 2017