IQSEC1, IQ motif and Sec7 domain ArfGEF 1, 9922

N. diseases: 31; N. variants: 4
Disease: Central hypotonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. 31607425 2019