SNAP25 Developmental and Epileptic Encephalopathy

[galyea123]

Mondo term

congenital myasthenic syndrome 18 MONDO:0014590

Synonyms

SNAP25-DEE

Synonym type

exact

Additional comments

We have received a message from a support organization of the SANP25 Foundation requesting to add this term. In addition, as most patients do not present with congenital myastenia as the main problem it may be better to use the term SNAP25 Developmental and Epileptic Encephalopathy as the main term. Thank you, Gioconda Alyea

[nicolevasilevsky]

thanks @galyea123. To stay in alignment with OMIM, we'll keep the current label but I added the synonym you requested.

thanks!
Nicole