Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 28957
Gene Symbol: MRPS28
MRPS28
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 GeneticVariation BEFREE Here, we report the identification of disease-causing variants in the MRPS28 gene, encoding the small mitoribosomal subunit (mtSSU) protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and developmental delay. 30566640

2019