PDE4D, phosphodiesterase 4D, 5144

N. diseases: 210; N. variants: 68
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
0.010 GeneticVariation disease BEFREE The four individuals with PDE4D mutations shared common clinical features, namely characteristic midface and nasal hypoplasia and moderate intellectual disability. 22464250 2012