Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543874
Disease: Apraxia, oculomotor, Cogan type
Apraxia, oculomotor, Cogan type
0.010 GeneticVariation disease BEFREE Our study shows that developmental delay, intellectual disability, hypotonia and ocular motor apraxia are common in INPP5E-related disorders and considerable intra-familial phenotypic variability is possible. 26748598 2016