An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
Kleefstra syndrome due to a point mutation
MONDO:0016865
Kleefstra syndrome due to 9q34 microdeletion
MONDO:0019896
Kleefstra syndrome 2
MONDO:0054701