PDE4D, phosphodiesterase 4D, 5144

N. diseases: 210; N. variants: 68
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE All patients with PDE4D variants shared characteristic facial features (midface hypoplasia with nasal hypoplasia) and some degree of intellectual disability. 30006632 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group BEFREE Our findings indicate that haploinsufficiency of PDE4D results in a novel intellectual disability syndrome, the 5q12.1-haploinsufficiency syndrome, with several opposing features compared with acrodysostosis that is caused by dominant negative mutations. 24203977 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group HPO