Disease: respiratory abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0231796
Disease: respiratory abnormalities
respiratory abnormalities 		0.010 GeneticVariation phenotype BEFREE A de novo frameshift mutation in HNRNPU was identified in a 5-year-old boy with developmental delay associated with Rett-like features including stereotypic hand movements and respiratory abnormalities with episode of apnea and hyperpnea followed by falling. 29858110 2018