Targeted gene under study

ZNF462 (OMIM 617371)


Heterozygous nonsense variants in ZNF462 gene are associated with Weiss-Kruszka syndrome characterized by ptosis, growth retardation, craniofacial malformations, and corpus callosum abnormalities.

We identified a homozygous missense variant in ZNF462 in one patient with a phenotype compatible with Weiss-Kruszka syndrome.

We are looking for other patients with mono- and bi-allelic variations in ZNF462.

Best regards

Coordinating clinicians/researchers

Dr Pauline Marzin –


Service de médecine génomique des maladies rares, hôpital Necker-enfants maladies, Paris, France

Specific requirements beyond clinical data and genotype data sharing:

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