Targeted gene(s)/phenotype under study :

• TAF2/Mental retardation, autosomal recessive 40 (OMIM 615599)

Abstract :

We are collecting patients with intellectual disability and biallelic (homozygous or compound heterozygous) variants in TAF2 in order to better describe the phenotype and the variants

Coordinating clinicians/researchers:  Marion Lesieur, Boris Keren

Institution :

Genetics Department,

Pitié-Salpêtrière Hospital,

Paris, France

Contact : marion.lesieur@aphp.fr ,  boris.keren@aphp.fr        

Specific requirements beyond clinical data and genotype data sharing:

• Re-analysis of DNA samples : N
• Resampling of patients : N
• Linked to a translational/basic research project? N