ARPP21, cAMP regulated phosphoprotein 21, 10777

N. diseases: 38; N. variants: 5
Disease: Roifman-Chitayat Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750068
Disease: Roifman-Chitayat Syndrome
Roifman-Chitayat Syndrome 		0.010 GeneticVariation disease BEFREE We previously reported a novel syndrome characterized by combined immunodeficiency associated with severe developmental defects-subsequently known as Roifman-Chitayat syndrome (RCS; OMIM 613328). 29180244 2018