Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 Biomarker disease GENOMICS_ENGLAND Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet. 30879640 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 GeneticVariation disease BEFREE Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet. 30879640 2019