Targeted gene under study:

BCAS3, OMIM # 607470


Bi-allelic loss-of-function variants in BCAS3 were recently reported to be associated with a global developmental delay with pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, seizures, and in some patients, brain iron accumulation. However, due to the recent identification of this new syndrome, there is very limited data in the medical literature, with only two clinical research studies published. In order to contribute to the elucidation this new syndrome through clinical and potentially functional studies, we aim to collect a cohort of patients with bi-allelic loss-of-function variations in the BCAS3 gene.

Coordinating clinicians

Dr Guillaume Jouret –


National Center of Genetics (NCG), Laboratoire National de Santé (LNS), Dudelange, Luxembourg

Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: No

2- Resampling of patients: No or in a second step

3- Linked to a translational/basic research project: Yes