Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6602
Gene Symbol: SMARCD1
SMARCD1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 Biomarker 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