Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0575090
Disease: Equilibration disorder
Equilibration disorder
0.010 GeneticVariation phenotype BEFREE SAMD9L mutations have been reported in a few families with balance problems and nystagmus due to cerebellar atrophy, and may lead to similar hematological disease as seen in SAMD9 mutation carriers, from early childhood to adult years. 29535429 2018