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Kleefstra syndrome 1

rare

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.

Identifiers
MONDO:0027407 OMIM:610253
Causal genes
EHMT1
Part of
Kleefstra syndromeCongenital nervous system disorderIntellectual disability, autosomal dominant

Subtypes

All diseases Rare only

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