Targeted gene(s)/phenotype under study

RHOA-related mosaic neuroectodermal disorder, OMIM # 618727


In 2019, we described the RHOA-related mosaic neuroectodermal disorder as a clinically recognizable syndrome, combining facial dysmorphism, linear hypopigmentation, alopecia, leukoencephalopathy, and ocular, dental and acral anomalies. RHOA sequencing is now offered as a diagnosis test by several labs, and more patients were diagnosed with this disorder.

We aim to gather clinical and molecular data of additional patients with a mosaic RHOA mutation (confirmed or suspected), in particular older patients, in order to better delineate the clinical spectrum of this disorder.

Coordinating clinicians/researchers

Dr. Arthur Sorlin

Prof. Paul Kuentz


National Center of Genetics, Laboratoire national de santé, Luxembourg

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