Clinical entity associated to the gene SATB1

[OrphanetSwitzerland]

Hello,

The genetic medicine services from Lausanne and Zurich each reported a patient with a mutation in the gene SATB1 for which they could not find a corresponding OPRHAcode.

Please consider creating a new entity based on these references:

• PMID: 33513338 - Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
• https://omim.org/entry/619229

Thank you

[MCecile-US14]

Dear @OrphanetSwitzerland,

Please note this creation is already in our requests list to be evaluated (from another channel), @Mickael-Orphanet will review it after the summer and let you know the decision from orphanet medical and scientific committee

Thank you, Kind Regards, Marie-Cécile

[Mickael-Orphanet]

Dear @OrphanetSwitzerland , Based on current literature, Orphanet medical and scientific committee has validated the creation of ‘Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome’, ORPHA:684232. Major clinical features are: Developmental delay with variable intellectual disability and show dysmophic facies and dental anomalies and epilepsy in patients due to variant of SATB1 gene. Please wait next week to the see it in the website.

Best regards, Mickael