Targeted gene under study

CHD3-related syndrome (OMIM #618205 Snijders Blok-Campeau syndrome; ORPHA:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome)


As part of a project looking at growth pathologies and epigenetics, we want to produce a phenotypic and molecular description of patients (including episignature) carrying a pathological variant for CHD3. Clinical data and a DNA aliquot (from blood) will be collected. Two patients are currently being studied.

Coordinating clinicians/researchers

Maud de Dieuleveult –

Valérie Cormier-Daire


Institut Imagine INSERM U1163, Paris, France

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: Yes
  • Resampling of patients: No
  • Linked to a translational/basic research project: No