FRMPD4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Intellectual disability

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• X-linked non-syndromic intellectual disability

  0.70

• Intellectual disability

  0.56

• X-linked complex neurodevelopmental disorder

  0.40

• Global developmental delay

  0.37

• non-syndromic X-linked intellectual disability

  0.37

• adolescent idiopathic scoliosis

  0.31

• rotator cuff syndrome

  0.30

• shoulder impingement syndrome

  0.30

• Neurodevelopmental delay

  0.27

• severe acute respiratory syndrome

  0.24

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

Protein function (UniProt)

Diseases associated with FRMPD4

Curated MONDO disease pages that list FRMPD4 among their top associated genes.

• adolescent idiopathic scoliosisRare