Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
0.010 GeneticVariation group BEFREE In this study, we broaden the clinical and mutational HNRNPU-associated spectrum, and demonstrate that heterozygous HNRNPU variants cause epilepsy, severe ID with striking speech impairment and variable CNS, cardiac, and renal anomalies. 28393272 2017