Mondo term
intellectual disability, autosomal dominant 54 (MONDO:0030920)
Synonyms
CAMK2B-related neurodevelopmental disorder
Synonym type
exact
Additional comments
Please see: https://pmc.ncbi.nlm.nih.gov/articles/PMC11418780/
Note: as is the case for several numbered intellectual disability that are listed in MONDO per OMIM, the synonyms may not be exact as the gene-related disorders will include more features than intellectual disability but I think it is important to add the synonyms as they are referring to the same condition. It may also be the case where you decide adding this as a new term "CAMK2B-related neurodevelopmental disorder" that is a parent for the current MONDO term intellectual disability, AD 54
Mondo term
intellectual disability, autosomal dominant 54 (MONDO:0030920)
Synonyms
CAMK2B-related neurodevelopmental disorder
Synonym type
exact
Additional comments
Please see: https://pmc.ncbi.nlm.nih.gov/articles/PMC11418780/
Note: as is the case for several numbered intellectual disability that are listed in MONDO per OMIM, the synonyms may not be exact as the gene-related disorders will include more features than intellectual disability but I think it is important to add the synonyms as they are referring to the same condition. It may also be the case where you decide adding this as a new term "CAMK2B-related neurodevelopmental disorder" that is a parent for the current MONDO term intellectual disability, AD 54