Clinical entity associated to the gene NOVA2

[OrphanetSwitzerland]

Hello,

The genetic medicine service from the HUG recently reported a patient with a mutation in the gene NOVA2.

Please consider adding the gene to the database and creating a new entity based on these references:

• PMID: 32197073 - De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

"We report here six individuals with de novo frameshift variants in NOVA2 affected with a severe neurodevelopmental disorder characterized by intellectual disability (ID), motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticity or ataxic gait, and abnormal brain MRI".

• https://www.omim.org/entry/618859

Thank you

[MCecile-US14]

Dear @Mickael-Orphanet,

Could you please look to this issue in priority when you get the chance and see if this entity needs to be created Thank you, Kind Regards, Marie-Cécile