DDX23

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• global developmental delay with speech and behavioral abnormalities

  0.37

• dengue disease

  0.37

• neurodevelopmental disorder

  0.34

• Abnormal facial shape

  0.27

• bilateral perisylvian polymicrogyria

  0.27

• fetal growth restriction

  0.27

• Failure to thrive

  0.27

• Motor delay

  0.27

• hereditary disease

  0.19

• complex neurodevelopmental disorder

  0.18

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)