GNB1-Related Disorder

[galyea123]

Mondo term

intellectual disability, autosomal dominant 42

Synonyms

No response

Synonym type

exact

Additional comments

This is related to 6600. We have a NORD report about this condition with the requested synonym name.
Thank you! Gioconda

[sabrinatoro]

Hello @galyea123
According to OMIM:139380, a variation in the GNB1 gene can lead to multiple diseases, including, but not limited to 'intellectual disability, autosomal dominant 42'. Therefore "GNB1-Related Disorder" should be broad and not exact.
Do you have any other information that we could refer to and that would support this synonym as exact?
Thank you!