Targeted gene under study

KIF4A (OMIM # 300521


We have recently collected and described the comprehensive clinical evaluation of 11 patients with X-linked KIF4A variants. We expanded the phenotype from a neurodevelopmental disorder to a congenital anomaly phenotype presenting with brain and other organ anomalies. We would like to continue to further delineate the phenotypic and genetic spectrum of the disorder by collecting and comparing clinical and genetic data. We are interested in all prenatal and postnatal, severe to milder manifestations, in particular also the congenital anomaly spectrum.

Coordinating clinicians/researchers

Prof. Dr. Isabel Filges, MD –

Dr. Sabrina Stefanelli, MD –


Medical Genetics, University Hospital Basel

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