Targeted phenotype under study:



We met a young patient with profound intellectual disability, congenital cataract, microcephaly (-6 SD). Brain MRI showed absence of telencephalic ventricles with cortical and midline anomalies. The CT scan showed calcifications.

We have not identified the potential genetic cause with CMA and genome sequencing, but there are a large number of homozygous variants that are not easy to interpret.
We are looking for other patients with this phenotype to try to find a genetic cause for this very rare phenotype which has been named aventriculy.

Drs. Cyril Mignot, Caroline Nava, Boris Keren, Genetics Dept, APHP Sorbonne Université
Dr. Stéphanie Valence, Pediatric Neurology, APHP Sorbonne Université

Coordinating clinician

Cyril Mignot –


Genetics Dept, GH Pitié-Salpêtrière, Paris, France

Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: No

2- Resampling of patients: No

3- Linked to a translational/basic research project: No