SEPTIN9, septin 9, 10801

N. diseases: 150; N. variants: 26
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338761
rs80338761
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0432072
Disease:
Dysmorphic features 		0.010 GeneticVariation BEFREE After confirming a heterozygous SEPT9 mutation (R88W) in the father and his mother, it became apparent that the dysmorphic features in the children were part of HNA and that previous complaints of the daughter, erroneously diagnosed as pronatio dolorosa and then epiphysiolysis of the capitellum humeri, were in fact a first neuralgic pain attack. 18492087 2008