DDX59, DEAD-box helicase 59, 83479

N. diseases: 42; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.110 GeneticVariation disease BEFREE We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with orofaciodigital syndrome phenotype associated with a broad neurological involvement characterized by microcephaly, intellectual disability, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic events. 29127725 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.110 Biomarker disease HPO